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List of works by Michael R. Hayden

"Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

scientific article published on 18 August 2012

A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia

article

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

scientific article published in January 1994

A Common Mutation in the Lipoprotein Lipase Gene (N291S) Alters the Lipoprotein Phenotype and Risk for Cardiovascular Disease in Patients With Familial Hypercholesterolemia ⬇️

scientific article published on 01 March 1998

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits

scientific article

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

scientific article

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

scientific article published in June 1993

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

scientific article

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

scientific article published in May 1999

A clinical tool for reducing central nervous system depression among neonates exposed to codeine through breast milk.

scientific article

A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer

scientific article

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study

scientific article published on 01 June 1999

A fully humanized transgenic mouse model of Huntington disease.

scientific article

A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.

scientific article

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

scientific article

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

scientific article

A grand challenge: providing benefits of clinical genetics to those in need.

scientific article published in March 2011

A highly polymorphic locus very tightly linked to the Huntington's disease gene ⬇️

scientific article published on June 23, 1988

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

scientific article published in May 2004

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

scientific article

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis ⬇️

scientific article published on May 1, 1995

A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers

scientific article published on 18 February 2015

A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini ⬇️

scientific article published on January 1, 1991

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

scientific article published on September 1992

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

scientific article published in April 2004

A new mutation for Huntington disease following maternal transmission of an intermediate allele

scientific article

A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis

article

A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles

scientific article published on 18 January 2017

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

scientific article published in July 2015

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

scientific article

A one-hit model of cell death in inherited neuronal degenerations

scientific article published in July 2000

A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.

scientific article

A polymorphic DNA marker at the D10S106 locus

scientific article published on April 1991

A polymorphic DNA probe located to human chromosome 4p16 (D4S62)

scientific article published on May 1987

A quantitative method for the specific assessment of caspase-6 activity in cell culture

scientific article (publication date: 2011)

A role for epsin N-terminal homology/AP180 N-terminal homology (ENTH/ANTH) domains in tubulin binding

scientific article (publication date: August 2003)

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

article

A systematic review and meta-analysis of clinical variables used in Huntington disease research

scientific article published on 18 October 2013

A true mentor and pioneer in medical genetics.

scientific article published on 26 May 2016

A whole brain longitudinal study in the YAC128 mouse model of Huntington's disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes

scientific article published on 16 April 2018

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. ⬇️

scientific article

ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice

scientific article published on 12 March 2016

ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease

scientific article

ABCA1 in adipocytes regulates adipose tissue lipid content, glucose tolerance, and insulin sensitivity

scientific article published on 17 January 2014

ABCA1 influences neuroinflammation and neuronal death

scientific article

ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens

scientific article

ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation

scientific article published in March 2002

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels.

scientific article

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

scientific article

Aberrant palmitoylation in Huntington disease

scientific article published on April 2015

Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions

scientific article

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

scientific article published on February 1996

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

scientific article published on 24 October 2007

Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis.

scientific article published on 17 August 2009

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.

scientific article published on 16 June 2008

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

scientific article published in March 1999

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

scientific article

Acidic and basic fibroblast growth factor-like immunoreactivity in the striatum and midbrain in Huntington's disease

scientific article

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus

scientific article

Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation

article

Adenosine-triphosphate-binding cassette transporter-1 trafficking and function

scientific article published on February 2010

Adoption and the communication of genetic risk: experiences in Huntington disease.

scientific article published on 9 January 2011

Adverse drug reaction active surveillance: developing a national network in Canada's children's hospitals.

scientific article

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

scientific article

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

scientific article

Age-dependent alterations of corticostriatal activity in the YAC128 mouse model of Huntington disease

scientific article

Age-dependent neurovascular abnormalities and altered microglial morphology in the YAC128 mouse model of Huntington disease

scientific article

Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients

scientific article

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element

scientific article published in August 2003

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1.

scientific article published on May 2003

Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease.

scientific article published on April 2007

Altered Regulation of Striatal Neuronal -Methyl-D-Aspartate Receptor Trafficking by Palmitoylation in Huntington Disease Mouse Model

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease

scientific article published on 25 September 2010

Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

scientific article published on 20 July 2011

Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease.

scientific article

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1

article

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL ⬇️

scientific article published on September 29, 2011

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin

scientific article published on June 1991

An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily

scientific article published on July 1993

An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes

scientific article

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

article

Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases

scientific article published on 28 September 2012

Antisense oligonucleotide-mediated correction of transcriptional dysregulation is correlated with behavioral benefits in the YAC128 mouse model of Huntington's disease

scientific article

Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hypelipidaemic individuals

article

Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana.

scientific article

Application of principal component analysis to pharmacogenomic studies in Canada

article

Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. Canadian Collaborative Study for Predictive Testing for Huntington Disease

scientific article published in July 1995

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

scientific article

Assessment of French patients with LPL deficiency for French Canadian mutations ⬇️

scientific article published on August 1, 1997

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.

scientific article published on 27 April 2017

Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study

scientific article published in January 2002

Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease

scientific article published in November 1993

Author Correction: Laquinimod treatment in the R6/2 mouse model

scholarly article published in Scientific Reports

Author response: Huntington disease reduced penetrance alleles occur at high frequency in the general population

scientific article published in January 2017

Automated deformation analysis in the YAC128 Huntington disease mouse model

scientific article

Autophagy in Huntington disease and huntingtin in autophagy

scientific article published on 02 October 2014

BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice

scientific article

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

scientific article

Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment

scientific journal article

Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease

scientific article

Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease

scientific article

Bidirectional control of postsynaptic density-95 (PSD-95) clustering by Huntingtin

scientific article published on 17 December 2013

Bilateral renal agenesis in twins

scientific article published on 01 May 1985

Biophysical and biological characterization of hairpin and molecular beacon RNase H active antisense oligonucleotides.

scientific article

Body weight is modulated by levels of full-length huntingtin

scientific article published on 28 March 2006

Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo.

scientific article published on 28 August 2006

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

scientific article published on 7 September 2006

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

scientific article

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

scientific article

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

scientific article published on 29 July 2013

CAG-encoded polyglutamine length polymorphism in the human genome

scientific article

CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches

scientific article

CYP2D6 polymorphisms and codeine analgesia in postpartum pain management: a pilot study.

scientific article

Cancer pharmacogenomics in children: research initiatives and progress to date.

scientific article published on April 2013

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction

scientific article

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

scientific article

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease.

scientific article published on September 2002

Caspase-6 and neurodegeneration.

scientific article

Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches.

scientific article

Caudate volume as an outcome measure in clinical trials for Huntington's disease: a pilot study

scientific article published on December 2003

Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex

scientific article published in April 1998

Central Nervous System Depression of Neonates Breastfed by Mothers Receiving Oxycodone for Postpartum Analgesia

scientific article published on 31 August 2011

Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease.

scientific article published in July 2006

Chapter 15 Juvenile amyotrophic lateral sclerosis

scientific article published in January 2007

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.

scientific article published in June 1990

Characterization of subventricular zone-derived progenitor cells from mild and late symptomatic YAC128 mouse model of Huntington's disease

scientific article published on 19 September 2017

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

scientific article

Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes

scientific article

Cholesterol in beta-cell dysfunction: the emerging connection between HDL cholesterol and type 2 diabetes.

scientific article published on February 2010

Cholesterol in islet dysfunction and type 2 diabetes

scientific article published on February 2008

Cholesterol metabolism in Huntington disease

scientific article published on 06 September 2011

Choosing an animal model for the study of Huntington's disease

scientific article

Chromosomal localization of the Huntingtin Associated Protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping

article

Clarity is essential when using Nucleotide number systems

scientific article published on 01 October 2003

Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo.

scientific article

Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin

scientific article published in June 2006

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract

scientific article published on August 1996

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

scientific article

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

scientific article

Codeine-related deaths: The role of pharmacogenetics and drug interactions

scientific article published on 26 March 2014

Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease.

scientific article published in April 2005

Comment on Rickels et al. Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young Adults. Diabetes 2015;64:193-199.

scientific article

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

scientific article

Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population

scientific article published in June 2001

Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function

scientific article published on July 1996

Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits.

scientific article

Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington's Disease Models

scientific article

Comparative efficacy and safety of pravastatin, nicotinic acid and the two combined in patients with hypercholesterolemia

article

Comparing the biological impact of glatiramer acetate with the biological impact of a generic

scientific article published on 8 January 2014

Comparison of gemfibrozil and clofibrate on serum lipids in familial combined hyperlipidemia. A randomized placebo-controlled, double-blind, crossover clinical trial

scientific article published in October 1988

Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis

scientific article

Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation

scientific article published on 7 July 2005

Compositional differences between Copaxone and Glatopa are reflected in altered immunomodulation ex vivo in a mouse model

scientific article published in November 2017

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250 ? Asn; Ser251 ? Cys) resulting in lipoprotein lipase (LPL) deficiency

article

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia ⬇️

scientific article published on 01 January 1998

Constitutive ablation of caspase-6 reduces the inflammatory response and behavioural changes caused by peripheral pro-inflammatory stimuli

scientific article published on 12 March 2018

Convergent pathogenic pathways in Alzheimer's and Huntington's diseases: shared targets for drug development.

scientific article published on 21 October 2011

Correction of Hypertriglyceridemia and Impaired Fat Tolerance in Lipoprotein Lipase–Deficient Mice by Adenovirus-Mediated Expression of Human Lipoprotein Lipase ⬇️

scientific article published on 01 November 1997

Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation

scientific article published in May 2006

Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease

scientific article published on 26 February 2008

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

scientific article published in March 2005

Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease.

scientific article published in October 2005

DNA testing for Huntington disease results in a modification of risk and not diagnosis of disease

scientific article published in April 1990

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype

scientific article published on 14 August 2013

Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain

scientific journal article

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

scientific article

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

scientific article published in November 1992

Depletion of wild-type huntingtin in mouse models of neurologic diseases

scientific article published in October 2003

Deranged neuronal calcium signaling and Huntington disease.

scientific article published in October 2004

Design, Characterization, and Lead Selection of Therapeutic miRNAs Targeting Huntingtin for Development of Gene Therapy for Huntington's Disease.

scientific article

Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis

scientific article

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

scientific article published on 6 December 2012

Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program

scientific article

Diagnostic testing for vaccinomics: is the regulatory approval framework adequate? A comparison of Canada, the United States, and Europe

scientific article published on 05 July 2011

Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression

scientific article published in October 1993

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin.

scientific article published on 18 January 2011

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

scientific article

Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of disease

scientific article published on February 2009

Dilemmas of anonymous predictive testing for Huntington disease: privacy vs. optimal care

scientific article published in August 1997

Direct intracerebral delivery of a miR-33 antisense oligonucleotide into mouse brain increases brain ABCA1 expression. [Corrected].

scientific article published on 06 May 2015

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

scientific journal article

Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.

scientific article

Dopamine D2 receptor gene variants and response to rasagiline in early Parkinson's disease: a pharmacogenetic study

scientific article published on 13 May 2016

Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue

scientific article

Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population ⬇️

scientific article published on 01 January 1998

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice

Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice

scientific article

Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.

scientific article published on August 2002

Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice.

scientific article

Economic impact of a genetic test for cisplatin-induced ototoxicity

scientific article published on 19 April 2011

Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's disease

scientific article

Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells

scientific article published on January 1997

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

scientific article (publication date: August 2003)

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

scientific journal article

Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma

scientific article published on 8 August 2006

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease ⬇️

scientific article published on 24 October 2007

Enhanced atherothrombotic formation after oxidative injury by FeCl3 to the common carotid artery in severe combined hyperlipidemic mice.

scientific article published on 28 May 2009

Enhanced immune response to MMP3 stimulation in microglia expressing mutant huntingtin

scientific article published on 23 March 2016

Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease

scientific article published on 7 July 2004

Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells.

scientific article

Epidemiology of Huntington disease

scientific article

Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa

scientific article published on July 1989

Erratum: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy

scholarly article published in Nature Genetics

Ethical issues in preclinical testing in Huntington disease: response to Margery Shaw's invited editorial comment

scientific article published in November 1987

Ethyl-EPA in Huntington disease: a double-blind, randomized, placebo-controlled trial

scientific article published in July 2005

Ethyl-EPA treatment improves motor dysfunction, but not neurodegeneration in the YAC128 mouse model of Huntington disease.

scientific article

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

scientific article

Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.

scientific article

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results

scientific article published on 15 January 2014

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

scientific article published in May 1992

Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death ⬇️

scientific article published on October 30, 2001

Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency

scientific article published in January 2002

Expression of LPL in Endothelial-Intact Artery Results in Lipid Deposition and Vascular Cell Adhesion Molecule-1 Upregulation in Both LPL and ApoE-Deficient Mice

scientific article published on 12 October 2006

Expression of matrix metalloproteinase activity in idiopathic dilated cardiomyopathy: a marker of cardiac dilatation

scientific article published in September 2004

FASA-57 cDNA shares no homology with coding sequence of HD gene.

scientific article published on 28 December 2005

Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease

scientific article

Familial aggregation of psychotic symptoms in Huntington's disease.

scientific article

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele

scientific article published in December 1997

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia

scientific article published on 01 October 1993

Familial influence on age of onset among siblings with Huntington disease

scientific article

Fatal hydrocodone overdose in a child: pharmacogenetics and drug interactions.

scientific article

Forskolin and dopamine D1 receptor activation increase huntingtin's association with endosomes in immortalized neuronal cells of striatal origin.

scientific article published on January 1999

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

scientific article published on 03 August 2020

From mutation identification to therapy: discovery and origins of the first approved gene therapy in the Western world

scientific article

Full length mutant huntingtin is required for altered Ca2+ signaling and apoptosis of striatal neurons in the YAC mouse model of Huntington's disease.

scientific article published on 16 April 2008

Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression

scientific article

Functional effects of the antigen glatiramer acetate are complex and tightly associated with its composition

scientific article published on 24 November 2015

Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients

scientific article published on 22 January 2018

Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection

scientific article

Gene expression studies of a human monocyte cell line identify dissimilarities between differently manufactured glatiramoids

scientific article

Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1.

scientific article published in July 1998

Gene therapy for lipoprotein lipase deficiency: working toward clinical application

scientific article

Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition.

scientific article

Genetic aspects of Huntington's chorea: results of a national survey

scientific article

Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics

scientific article

Genetic testing and Huntington's disease: issues of employment

scientific article published in April 2004

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy

scientific article

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

scientific article

Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms

scientific article

Genotypic approaches to therapy in children: a national active surveillance network (GATC) to study the pharmacogenomics of severe adverse drug reactions in children.

scientific article

Glucose intolerance and decreased early insulin response in mice with severe hypertriglyceridemia

scientific article published in January 2010

HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo.

scientific article

HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.

scientific article published on 10 February 2014

HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate-induced Ca release in primary culture of striatal medium spiny neurons

scientific journal article

HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity

scientific article published on 3 March 2015

HDL and LDL cholesterol significantly influence beta-cell function in type 2 diabetes mellitus.

scientific article published on June 2010

HDL deficiency and atherosclerosis: lessons from Tangier disease

scientific article published in February 2004

HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain

scientific article

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis

scientific article (publication date: November 2002)

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

scientific article published on 19 January 2011

Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia

scientific article published on 25 January 2006

Hepatic ABCA1 expression improves β-cell function and glucose tolerance

scientific article published on 15 July 2014

Hepatic ATP-Binding Cassette Transporter A1 Is a Key Molecule in High-Density Lipoprotein Cholesteryl Ester Metabolism in Mice

article

Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size

scientific article

High density lipoprotein metabolism in low density lipoprotein receptor-deficient mice

scientific article

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population

scientific article published on 30 August 2013

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.

scientific article published on 16 October 2012

Hippi is essential for node cilia assembly and Sonic hedgehog signaling

scientific journal article

Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease.

scientific article published on 25 January 2017

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

scientific article

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

article

Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

scientific article

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

scientific article published on 13 August 2012

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype

scientific article published in December 1996

Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism

scientific article published in August 2000

Hunting human disease genes: lessons from the past, challenges for the future.

scientific article published on 17 March 2013

Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1

scientific article

Huntingtin associates with acidic phospholipids at the plasma membrane

scientific article

Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction.

scientific article

Huntingtin inhibits caspase-3 activation

scientific journal article

Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain

scientific article

Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain

scientific article

Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.

scientific article

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

scientific article (publication date: September 2003)

Huntingtin is required for normal hematopoiesis

scientific article

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo

scientific article published on 20 April 2005

Huntingtin proteolysis in Huntington disease

Huntingtin suppression restores cognitive function in a mouse model of Huntington's disease

article

Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity.

scientific article

Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins

scientific article

Huntington Disease

scientific article published on 5 July 2018

Huntington disease

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

scientific article published on 06 March 2013

Huntington disease reduced penetrance alleles occur at high frequency in the general population

scientific article published on 22 June 2016

Huntington's Disease-like 2 (HDL2) in North America and Japan

scientific article published in November 2004

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome.

scientific article

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.

scientific article published in October 2002

Identification of a novel caspase cleavage site in huntingtin that regulates mutant huntingtin clearance

scientific article published on 13 November 2018

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

scientific article

Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin.

scientific article

Identification of binding sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L

scientific article

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

scientific article published on December 1991

Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

article

Impaired prolactin release in Huntington's chorea. Evidence for dopaminergic excess ⬇️

scientific article published on August 27, 1977

Impairment and Restoration of Homeostatic Plasticity in Cultured Cortical Neurons From a Mouse Model of Huntington Disease

scientific article published on 16 May 2019

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family

scientific article published on 06 August 2019

In their own words: reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND-HD study

scientific article

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

scientific article published on January 1999

Increased ABCA1 activity protects against atherosclerosis

Increased ABCA1 activity protects against atherosclerosis.

scientific article

Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease

scientific article

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

scientific article published in October 1995

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.

scientific article published on 19 August 2011

Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease

scientific article published in March 2002

Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells

scientific article

Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease.

scientific article

Inhibition of calpain cleavage of huntingtin reduces toxicity: accumulation of calpain/caspase fragments in the nucleus

scientific journal article

Insufficient evidence to invoke defects in or around the A-I gene as the cause for familial hypoalphahpoproteinemia

article

Insulin and IGF-1 regularize energy metabolites in neural cells expressing full-length mutant huntingtin.

scientific article published on 03 February 2016

Insurance and the presymptomatic diagnosis of delayed-onset disease

scientific article published in The Journal of the American Medical Association

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

scientific article published on 01 June 2003

Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease.

scientific article

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD.

scientific article published on 11 February 2016

Interleukin-1α-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3

article

Intestinal ABCA1 directly contributes to HDL biogenesis in vivo

scientific article published on 16 March 2006

Intrachromosomal location of the telomeric repeat (TTAGGG)n

scientific article published in January 1991

Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients

scientific article published on 18 September 2008

Intrinsic cleavage of receptor-interacting protein kinase-1 by caspase-6.

scientific article published on 3 August 2012

Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease

scientific article published on 23 April 2019

Is tetrabenazine safe and effective for suppressing chorea in Huntington's disease?

scientific article published on 01 October 2006

Islet cholesterol accumulation due to loss of ABCA1 leads to impaired exocytosis of insulin granules

scientific article published on 12 October 2011

Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity

scientific article published in January 1999

Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease

scientific article published on 17 October 2018

Laquinimod arrests experimental autoimmune encephalomyelitis by activating the aryl hydrocarbon receptor

scientific article published on 26 September 2016

Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells

scientific article published on 29 January 2016

Laquinimod decreases Bax expression and reduces caspase-6 activation in neurons

scientific article published on 10 June 2016

Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease.

scientific article

Laquinimod treatment in the R6/2 mouse model

scientific article

Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse.

scientific article

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

scientific article published on 16 May 2019

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

scientific article

Lessons from predictive testing for Huntington disease: 25 years on.

scientific article

Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models

scientific article published on 17 October 2005

Life without huntingtin: normal differentiation into functional neurons

scientific journal article

Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation

scientific article published on 30 March 2006

Localization of the cell death genes CPP32 and Mch-2 to human Chromosome 4q

article

Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice

scientific article published in January 2004

Loss of both ABCA1 and ABCG1 results in increased disturbances in islet sterol homeostasis, inflammation, and impaired β-cell function

scientific article published on 7 February 2012

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease

scientific article (publication date: 20 July 2001)

Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease

scientific article published on 13 April 2005

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

scientific article published on April 2007

Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice

scientific article

Macrophage ATP-binding cassette transporter A1 overexpression inhibits atherosclerotic lesion progression in low-density lipoprotein receptor knockout mice

scientific article published on 2 February 2006

Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease.

scientific article

Managing genetic discrimination: strategies used by individuals found to have the Huntington disease mutation

scientific article published on March 2007

Many roads lead to atheroma

scientific article

Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activity

article

Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene to human chromosome 4q21.2 by fluorescence in situ hybridization.

scientific article

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice

scientific article

Maternal expression of functional lipoprotein lipase and effects on body fat mass and body condition scores of mature cats with lipoprotein lipase deficiency.

scientific article published in February 2001

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

scientific article published in February 2001

Memory and synaptic deficits in Hip14/DHHC17 knockout mice.

scientific article

Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease.

scientific article published on 19 August 2011

Michael Smith (1932-2000).

scientific article

Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene

scientific article published on 01 October 1992

Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease.

scientific article

Mitochondrial-dependent Ca2+ handling in Huntington's disease striatal cells: effect of histone deacetylase inhibitors.

scientific article

Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes

scientific article published on 4 May 2016

Molecular Genetic Approaches to the Study of the Nervous System pp. 189–201 ⬇️

scientific article published on January 1, 1983

Molecular genetics of human lipoprotein lipase deficiency

scientific article published on August 18, 1992

Monoamines and their metabolites in Huntington's disease brain: evidence for decreased catechol-O-methyltransferase activity

scientific article published in April 1993

More codeine fatalities after tonsillectomy in North American children

scientific article published on 9 April 2012

Mouse models of Huntington disease: variations on a theme.

scientific article

Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk

scientific article published on 21 October 2013

Murine alpha-L-iduronidase: cDNA isolation and expression.

scientific article published on November 1994

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

scientific article

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

scientific article

Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells

scientific article

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

scientific article

Mutant huntingtin enhances excitotoxic cell death.

scientific article

Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro

scientific article

Mutant huntingtin is cleared from the brain via active mechanisms in Huntington disease

scientific article published on 10 December 2020

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage

scientific article

Mutant huntingtin: nuclear translocation and cytotoxicity mediated by GAPDH

scholarly article

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

scientific article

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

scientific article (publication date: December 2003)

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

scientific article (publication date: 2004)

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

scientific article published in The Lancet

Mycophenolate mofetil and atherosclerosis: results of animal and human studies.

scientific article published on September 2007

Mycophenolate mofetil attenuates plaque inflammation in patients with symptomatic carotid artery stenosis

scientific article published on 6 February 2010

N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease

scientific article

NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1

scientific journal article

NMDA receptor function in mouse models of Huntington disease

scientific article published in November 2001

NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease

scientific article published on 10 July 2012

Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease

scientific article

Neurodegeneration: Role of repeats in protein clearance.

scientific article published on 26 April 2017

Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity

scientific article published on 19 March 2009

New insights into the clinical features, pathogenesis and molecular genetics of Huntington disease

scientific article published on October 1, 1992

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.

scientific article published in June 1992

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans

scientific article published on 01 June 2011

Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity

scientific journal article

Onset and pre-onset studies to define the Huntington's disease natural history.

scientific article

Origins and evolution of Huntington disease chromosomes

scientific article published on September 1995

Palmitoylation and function of glial glutamate transporter-1 is reduced in the YAC128 mouse model of Huntington disease

scientific article published on 2 June 2010

Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function.

scientific article published on 25 June 2009

Palmitoylation of caspase-6 by HIP14 regulates its activation

scientific article published on 2 December 2016

Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function

scientific article

Pathological association and dissociation of functional systems in multiple sclerosis and Huntington's disease

scientific article published in February 1997

Patients With ApoE3 Deficiency (E2/2, E3/2, and E4/2) Who Manifest With Hyperlipidemia Have Increased Frequency of an Asn 291→Ser Mutation in the Human LPL Gene ⬇️

scientific article published on 01 October 1995

Patients' rights to laboratory data: trinucleotide repeat length in Huntington disease

scientific article published in March 1996

Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study

scientific article

Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease

scientific article published on April 2008

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

scientific article published on 09 June 2009

Personalized gene silencing therapeutics for Huntington disease.

scientific article published on 11 April 2014

Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study

scientific article

Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children

Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer.

scientific article published on 19 March 2017

Pharmacogenomics and active surveillance for serious adverse drug reactions in children.

scientific article published on September 2010

Pharmacogenomics and its implications for autoimmune disease

scientific article published on 01 March 2007

Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes.

scientific article

Pharmacogenomics strategies to optimize treatments for multiple sclerosis: Insights from clinical research

scientific article published on 4 March 2016

Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain

scientific article

Phosphorylation of huntingtin at Ser421 in YAC128 neurons is associated with protection of YAC128 neurons from NMDA-mediated excitotoxicity and is modulated by PP1 and PP2A.

scientific article published on October 2010

Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments

scientific article published on 18 October 2008

Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compared with Copaxone.

scientific article published on 30 May 2018

Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo.

scientific article

Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels.

scientific article published on 13 January 2009

Polyglutamine-modulated striatal calpain activity in YAC transgenic huntington disease mouse model: impact on NMDA receptor function and toxicity

scientific article published in November 2008

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

scientific article

Postpartum Maternal Codeine Therapy and the Risk of Adverse Neonatal Outcomes

scientific article published on 01 August 2012

Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin

scientific article

Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease

scientific article published in March 2004

Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16.

scientific article

Preclinical testing in Huntington disease

scientific article published in July 1987

Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markers.

scientific article published on 7 March 2012

Predictive testing for Huntington disease

scientific article published on March 1992

Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk

scientific article published on February 1992

Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia

scientific article published in February 1989

Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates

scientific article

Predictive testing for Huntington disease: are we ready for widespread community implementation?

scientific article published in September 1991

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

scientific article

Predictive testing for Huntington's disease: a universal model?

scientific article

Predictive testing for Huntington's disease: the calm after the storm

scientific article published in December 2000

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.

scientific article published in December 2003

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

scientific article published in June 2003

Preface

Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene

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Prenatal diagnosis of asplenia/polysplenia syndrome ⬇️

scientific article published on May 1, 1988

Preparing for preventive clinical trials: the Predict-HD study

scientific article published in June 2006

Presynaptic defects underlying impaired learning and memory function in lipoprotein lipase-deficient mice.

scientific article published in April 2009

Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec

scientific article published on 01 April 1992

Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease

scientific article published on 6 March 2018

Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin

scientific article published on 18 February 2009

Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency

scientific article published in The Lancet

Pridopidine Induces Functional Neurorestoration Via the Sigma-1 Receptor in a Mouse Model of Parkinson's Disease

scientific article published on 01 April 2019

Pridopidine activates neuroprotective pathways impaired in Huntington Disease

scientific article published on 27 July 2016

Pridopidine protects neurons from mutant-huntingtin toxicity via the sigma-1 receptor

scientific article published on 17 May 2019

Pridopidine stabilizes mushroom spines in mouse models of Alzheimer's disease by acting on the sigma-1 receptor

scientific article published on 27 December 2018

Pridopidine, a clinic-ready compound, reduces 3,4-dihydroxyphenylalanine-induced dyskinesia in Parkinsonian macaques

scientific article published on 21 December 2018

Protective up-regulation of CK2 by mutant huntingtin in cells co-expressing NMDA receptors

scientific article published on 30 October 2007

Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.

scientific article published on 23 August 2002

Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease.

scientific article published on October 2003

Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases.

scientific article published on 07 December 2011

Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS.

scientific article published on 19 August 2013

Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats

scientific article published on 01 September 2008

Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity

scientific article published on 16 May 2016

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

scientific article

Regulation of ABCA1 protein expression and function in hepatic and pancreatic islet cells by miR-145.

scientific article published on 17 October 2013

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice

scientific article

Response to "evaluation of pharmacogenetic markers to predict the risk of Cisplatin-induced ototoxicity".

scientific article published on 22 April 2014

Response to Falush: a role for cis-element polymorphisms in HD.

scientific article published on December 2009

Response to the Letter-to-the Editor by Cohen et al. concerning our eNeurologicalSci article, Melamed-Gal, et al. Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compa

Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein

scientific article published on 27 May 2003

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

scientific article published in August 1986

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

scientific article published on November 1997

Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells

scientific article

Risk reversals in predictive testing for Huntington disease.

scientific article

Role of NR2B-type NMDA receptors in selective neurodegeneration in Huntington disease

scientific article published on December 2003

Role of TPMT and COMT genetic variation in cisplatin-induced ototoxicity.

scientific article published on 5 November 2013

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

scientific article published on 15 December 2018

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

scientific article published on 8 November 2005

Selective degeneration in YAC mouse models of Huntington disease

scientific article published on 16 November 2006

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease

scientific article published in July 2003

Silent periods, long-latency reflexes and cortical MEPs in Huntington's disease and at-risk relatives

scientific article published in November 1989

Small changes, big impact: posttranslational modifications and function of huntingtin in Huntington disease.

scientific article published on 10 February 2011

Small molecule splicing modifiers with systemic HTT-lowering activity

scientific article published on 15 December 2021

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population

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Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease

scientific article published in April 2004

Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function

scientific article

Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro

scientific article published on 27 July 2006

Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet

scientific article published on 21 November 2007

Striatal neurochemical changes in transgenic models of Huntington's disease

scientific article

Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease

scientific article published on 13 September 2005

Striatal synaptic dysfunction and hippocampal plasticity deficits in the Hu97/18 mouse model of Huntington disease

scientific article

Structural abnormalities in spermatids together with reduced sperm counts and motility underlie the reproductive defect in HIP1−/− mice

scientific article published on 01 March 2007

Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms

scientific article published in February 1995

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease

scientific article published on 28 April 2016

Subtype-specific enhancement of NMDA receptor currents by mutant huntingtin

scientific article published on May 1999

Sudden death due to paralysis and synaptic and behavioral deficits when Hip14/Zdhhc17 is deleted in adult mice.

scientific article

Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

scientific article published on February 1995

Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models

scientific article published on 14 July 2013

Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity

scientific article published on May 2015

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

scientific article

Targeted deletion of hepatocyte ABCA1 leads to very low density lipoprotein triglyceride overproduction and low density lipoprotein hypercatabolism

scientific article

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior

scientific article published in April 2002

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

scientific article

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I

scientific article

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I

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Targeting the Sigma-1 Receptor via Pridopidine Ameliorates Central Features of ALS Pathology in a SOD1 Model

scientific article published on 01 March 2019

Testicular degeneration in Huntington disease.

scientific article

Tetrabenazine

scientific article published in January 2009

The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease

scientific article published in February 2001

The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.

scientific article published on 16 March 2004

The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease

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The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology

scientific article published on July 2010

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

scientific article

The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans

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The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease

scientific article published in October 2001

The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntington Disease Models

scientific article published on 01 April 2021

The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease.

scientific article

The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice

scientific article

The emerging era of pharmacogenomics: current successes, future potential, and challenges

scientific article published on 09 May 2014

The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia

scientific article

The fatal attraction of polyglutamine‐containing proteins ⬇️

scientific article published on April 1, 1998

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

scientific article (publication date: September 2003)

The global spectrum of protein-coding pharmacogenomic diversity.

scientific article published on 25 October 2016

The high frequency of juvenile Huntington's chorea in South Africa ⬇️

scientific article published on April 1, 1982

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

scientific article (publication date: July 1992)

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

scientific article published on June 1998

The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency ⬇️

scientific article published on February 1, 1992

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone

scientific article

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

scientific article published on 20 February 2018

The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3

scientific article (publication date: July 1994)

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

scientific article

The prediction of exons through an analysis of spliceable open reading frames

scientific article

The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing

scientific article published in November 1992

The role of free fatty acids, pancreatic lipase and Ca+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice

scientific article

The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia

scientific article published on 16 April 2003

The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease

scientific article

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.

scientific article published on 21 December 2016

Therapeutic approaches to Huntington disease: from the bench to the clinic

scientific article published on 21 September 2018

Therapeutic modulation of the bile acid pool by Cyp8b1 knockdown protects against nonalcoholic fatty liver disease in mice.

scientific article

Tissue-specific induction of intestinal ABCA1 expression with a liver X receptor agonist raises plasma HDL cholesterol levels.

scientific article published on 31 August 2006

Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.

scientific article published on 5 February 2009

To be or not to be toxic: aggregations in Huntington and Alzheimer disease

scientific article published on 27 June 2006

Toward understanding the molecular pathology of Huntington's disease.

scientific article published on July 1997

Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease

scientific article published on 7 November 2013

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis

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Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin

scientific article published in January 2012

Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker ⬇️

scientific article published on October 28, 2011

Treatment of YAC128 mice and their wild-type littermates with cystamine does not lead to its accumulation in plasma or brain: implications for the treatment of Huntington disease

scientific article published on 30 June 2005

Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease.

scientific article published on 26 January 2016

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol

scientific article published in November 2002

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

scientific article

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families ⬇️

scientific article published on June 24, 2013

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

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Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

scientific article published in January 2010

Update on genetics of Huntington's disease: availability of direct and accurate predictive test

scientific article published in June 1996

Urinary proteins in a patient with Tangier disease.

scientific article

VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children.

scientific article published on 29 January 2014

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis

scientific article (publication date: 2006)

Verbal episodic memory declines prior to diagnosis in Huntington's disease

scientific article published on 09 January 2007

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration ⬇️

scientific article published on November 12, 2011

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada

scientific article published on 11 July 2012

When good drugs go bad.

scientific article

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.

scientific article

Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease

scientific article

Wild-type huntingtin protects neurons from excitotoxicity

scientific article published on 17 January 2006

eEF2K inhibition blocks Aβ42 neurotoxicity by promoting an NRF2 antioxidant response.

scientific article published on 17 October 2016

miR-33a modulates ABCA1 expression, cholesterol accumulation, and insulin secretion in pancreatic islets.

scientific article published on 7 February 2012

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin

scientific article published on 18 September 2013

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