List of works by Marcy E. MacDonald

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

scientific article

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

scientific article

A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease

scientific article

A modifier of Huntington's disease onset at the MLH1 locus

scientific article published in October 2017

A novel approach to investigate tissue-specific trinucleotide repeat instability

scientific article

An over-expression system for characterizing Ppt1 function in Drosophila

scientific article

An ovine transgenic Huntington's disease model

scientific article

Assessment of cortical and striatal involvement in 523 Huntington disease brains

scientific article

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

scientific journal article

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

scientific article

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

scientific article published on 7 September 2006

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

scientific article

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

scientific article published on 01 January 2007

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

scientific article published on 5 September 2008

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

scientific article published on March 2008

Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors

scientific article

Characterization of the G Protein-coupled Receptor Kinase GRK4

scientific article published in Journal of Biological Chemistry

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

scientific article

Chromosome substitution strain assessment of a Huntington's disease modifier locus

scientific article

Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials

scientific article

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

scientific article published on 01 October 2002

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

scientific article

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

scientific article published on 25 July 2016

Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease

scientific article published on 24 January 2006

Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum

scientific article

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative

scientific article

Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells

scientific article published on 01 July 2006

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

scientific article

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy

scientific article

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice

scientific article published in March 2002

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

scientific journal article

Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells

scientific article published in October 2003

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

scientific article

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

scientific article

Expanding the notion of disease in Huntington's disease

scientific article

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

scientific article

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

scientific article published in January 2013

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

scientific article

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

scientific article

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice

scientific article published on 10 May 2006

Genetic modifiers of Huntington's disease

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

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

scientific article published on 22 August 2005

HD CAG-correlated gene expression changes support a simple dominant gain of function

scientific article

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

scientific article published on 05 February 2015

Haplotype-based stratification of Huntington's disease

scientific article

HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation

scientific article

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds

scientific article published on 27 February 2017

Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening

scientific article published on 11 January 2017

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

scientific article

HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction.

scientific article published in January 2018

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum

scientific article published in January 2014

Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules

scientific journal article

Huntingtin facilitates polycomb repressive complex 2.

scientific article

Huntingtin inhibits caspase-3 activation

scientific journal article

Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease.

scientific article published on 28 October 2014

Huntingtin: alive and well and working in middle management

scientific article (publication date: 4 November 2003)

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

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

scientific article published in November 2004

Huntington's disease

scientific article published on 01 January 2003

Huntington's disease: seeing the pathogenic process through a genetic lens

scientific article published on 10 July 2006

Huntington's disease: the case for genetic modifiers

scientific article published on 21 August 2009

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice

scientific article published in September 2002

Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families

scientific article

Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo

scientific article

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

scientific article published in December 2002

Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease

scientific article published on April 2013

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

scientific article

Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death

scientific article

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

scientific article

Meclizine is neuroprotective in models of Huntington's disease ⬇️

scientific article published on October 25, 2010

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

scientific article

Metabolic disruption identified in the Huntington's disease transgenic sheep model

scientific article published on 11 February 2016

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

scientific article

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

scientific article published on June 2003

Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release

scientific article published on 26 May 2004

Mutations in TITF-1 are associated with benign hereditary chorea

scientific article

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

scientific article

Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport

scientific article published in September 2003

No post-genetics era in human disease research

scientific article

Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.

scientific article published on 16 March 2018

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

scientific article published on 6 February 2017

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

scientific article

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

scientific article published on 27 March 2002

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span

scientific article

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

scientific article published in October 2016

Plans for HDBase—a research community website for Huntington's Disease

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

scientific article

Population-specific genetic modification of Huntington's disease in Venezuela.

scientific article

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

scientific article

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

scientific article

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

scientific article published on 4 December 2015

Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1

scientific article

Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation

scientific article

Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease

scientific article

Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease

scientific article

Sequence-Level Analysis of the Major European Huntington Disease Haplotype

scientific article

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

scientific article published in March 2003

Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway

scientific article published on 12 February 2004

Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis

scientific article

Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease

scientific article

Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models

scientific article

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

scientific article

TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence

scientific article

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease

scientific article published on 11 July 2005

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease

scientific article published on September 2015

The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia

scientific article published in October 2002

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

scientific article published on February 2016

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

scientific article

The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin.

scientific article

Transcriptional regulatory networks underlying gene expression changes in Huntington's disease

scientific article published on 26 March 2018

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism

scientific article

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

scholarly article

Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease.

scientific article

miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement

scientific article

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