List of works by Peter Henry St George-Hyslop

A TgCRND8 Mouse Model of Alzheimer's Disease Exhibits Sexual Dimorphisms in Behavioral Indices of Cognitive Reserve

scientific article

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

scientific article published in November 2001

A novel Alzheimer disease locus located near the gene encoding tau protein.

scientific article

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

scientific article published on 01 December 1996

A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

article

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

scientific article

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population.

scientific article published on 10 March 2018

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

scientific article published on 23 September 2011

ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

scientific article

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

scientific article published on 10 November 2015

APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes

scientific article (publication date: 28 February 2003)

APH-2/nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad.

scientific article published in December 2001

APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes

scientific article published on 15 April 2009

ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing

scientific article

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

scientific article published on August 1999

Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology

scientific journal article

Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease.

scientific article published in February 1997

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

scientific article published in July 1998

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

scientific article published in June 2003

Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

article

Additive effects of PS1 and APP mutations on secretion of the 42-residue amyloid beta-protein.

scientific article published on August 1998

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease

scientific article published on 17 October 2007

Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype

scientific article

Alzheimer's Disease

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

scientific article published on July 1996

Alzheimer's disease: Selectively tuning gamma-secretase.

scientific article

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

scientific article published in May 1999

An exploration of cognitive subgroups in Alzheimer's disease

scientific article

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene

scientific article published on December 1, 1992

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina

scientific article published on 6 February 2016

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

scientific article

Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease

article

Analysis of the glucocerebrosidase gene in Parkinson's disease

article

Anti-amyloid-β-mediated positron emission tomography imaging in Alzheimer's disease mouse brains

scientific article

Antibody clears senile plaques

scientific article published in Nature

Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

article

Apolipoprotein E polymorphism and age of onset for Alzheimer's disease in a bi-ethnic sample

scientific article published in September 2004

Apolipoprotein-E (APO-E) Genotype and Symptoms of Psychosis in Alzheimer's Disease

Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis

scientific article

Assembly of the presenilin γ-/ε-secretase complex.

scientific article

Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

scientific article

Association between SORL1 and Alzheimer's disease in a genome-wide study

scientific article

Association between bleomycin hydrolase and Alzheimer's disease in caucasians

scientific article published in November 1998

Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.

scientific article

Association between variants in IDE-KIF11-HHEX and plasma amyloid β levels

scientific article

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

scientific article

Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease

scientific article published on December 2008

Association studies between the plasmin genes and late-onset Alzheimer's disease

scientific article

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

scientific article

Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease

scientific article (publication date: 31 May 2002)

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Baculoviruses expressing the human familial Alzheimer's disease presenilin 1 mutation lacking exon 9 increase levels of an amyloid beta-like protein in Sf9 cells.

scientific article published on June 2004

Benign hereditary chorea: clinical, genetic, and pathological findings

scientific article

Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family.

scientific article published in February 1995

Beta amyloid aggregates induce sensitised TLR4 signalling causing long-term potentiation deficit and rat neuronal cell death

scientific article published on 18 February 2020

Biology of presenilins as causative molecules for Alzheimer disease.

scientific article

Biomolecular condensates undergo a generic shear-mediated liquid-to-solid transition

scientific article published on 13 July 2020

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

scientific article published on 16 January 2012

Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes

scientific article

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

scientific article

Brain traffic: subcellular transport of the amyloid precursor protein

scientific article published on April 2009

C-terminal calcium binding of α-synuclein modulates synaptic vesicle interaction

scientific article published on 19 February 2018

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease

scientific article

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.

scientific article published in November 2000

Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains.

scientific article

Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins

scientific article published on March 2006

Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia

scientific article published in October 2006

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations

scientific article published on 12 October 2016

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

article

Choice of biological source material supersedes oxidative stress in its influence on DJ-1 in vivo interactions with Hsp90.

scientific article published on 26 August 2011

Cholinergic neuron gene expression differences captured by translational profiling in a mouse model of Alzheimer's disease

scientific article published on 25 May 2017

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

scientific article

Clinical and genetic study of a large SPG4 Italian family

scientific article published in August 2005

Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy

scientific article

Coding mutations in SORL1 and Alzheimer disease

scientific article

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

scientific article

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.

scientific article published in January 2000

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

scientific article

Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus)

scientific article published on February 1996

Conversion to dementia among two groups with cognitive impairment. A preliminary report.

scientific article published on 6 August 2004

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

scientific article published on 8 July 2013

Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation

scientific article

Current and future implications of basic and translational research on amyloid-β peptide production and removal pathways

scientific article

Cyclohexanehexol inhibitors of Abeta aggregation prevent and reverse Alzheimer phenotype in a mouse model.

scientific article

Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes

scientific article published on 22 August 2006

Deciphering microglial diversity in Alzheimer's disease

scientific article published in June 2017

Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein

scientific article published in January 2002

Differential display analysis of presenilin 1-deficient mouse brains

scientific article published in December 2002

Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases

scientific article

Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition.

scientific article

Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining

scientific article

Early fear memory defects are associated with altered synaptic plasticity and molecular architecture in the TgCRND8 Alzheimer's disease mouse model

scientific article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific 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

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

scientific article published on 20 July 2012

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

scientific article published on 01 January 1998

Evidence for presenilin-1 involvement in amyloid angiopathy in the Alzheimer's disease-affected brain.

scientific article published in April 1998

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

scientific article

Excess of nicastrin in brain results in heterozygosity having no effect on endogenous APP processing and amyloid peptide levels in vivo

scientific article published on 27 October 2006

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

Expression of human FALS SOD in motorneurons of Drosophila.

scientific article published in May 1999

Extracellular monomeric tau protein is sufficient to initiate the spread of tau protein pathology

scientific article published on 14 November 2013

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease

scientific article

Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline.

scientific article

Familial Alzheimer's disease: progress and problems

scientific article published on September 1989

Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation

scientific article

Family reunion--the ZIP/prion gene family

scientific article published on 14 December 2010

Fcγ Receptor Polymorphisms Do Not Predict Response to Intravenous Immunoglobulin in Myasthenia Gravis

article

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

scientific article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Functional variants of OCTN cation transporter genes are associated with Crohn disease

scientific article

Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease

scientific article published on 14 March 2008

GENETICS OF DEMENTIA

article

Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells

scientific article published on February 2002

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Generation of amyloid beta protein from a presenilin-1 and betaAPP complex

scientific article published on March 2002

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

scientific article

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

scientific article published on 21 July 2012

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

scientific article published in December 2004

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

scientific article

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

scientific article published in September 1990

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Genome-Wide Linkage Scan of a Large Family with IgA Nephropathy Localizes a Novel Susceptibility Locus to Chromosome 2q36

scientific article published on 18 July 2007

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

scientific article (publication date: 2012)

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

scientific article published in May 2003

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia

article

Glial expression of presenilin epitopes in human brain with cerebral infarction and in astrocytoma.

scientific article

Group II metabotropic glutamate receptor stimulation triggers production and release of Alzheimer's amyloid(beta)42 from isolated intact nerve terminals

scientific article

Hereditary spastic paraplegia: clinical genetic study of 15 families

scientific article published in June 2004

Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation

article

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

scholarly article by Cindy Zadikoff et al published 17 March 2006 in Movement Disorders

Homozygous inheritance of the Machado-Joseph disease gene

article

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

scientific article published on 6 June 2014

IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy

scientific article published on 6 February 2008

Identification and structural characterisation of carboxy-terminal polypeptides and antibody epitopes of Alzheimer's amyloid precursor protein using high-resolution mass spectrometry

scientific article published in January 2005

Identification of Alzheimer disease-associated variants in genes that regulate retromer function

scientific article

Identification of Small Molecule Inhibitors of Tau Aggregation by Targeting Monomeric Tau As a Potential Therapeutic Approach for Tauopathies

scientific article (publication date: 19 October 2015)

Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals

scientific article published on 8 November 2010

Immunotherapy for Alzheimer's disease

scholarly article

Impaired conditioned taste aversion learning in APP transgenic mice

scientific article

In vivo reduction of amyloid-beta by a mutant copper transporter

scientific article

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

scientific article published on 13 November 2014

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

scientific article published on 14 May 2013

Induction of amyloid precursor protein mRNA after heat shock in cultured human lymphoblastoid cells.

scientific article published on April 1991

Interactome analyses of mature γ-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.

scientific article published on 15 April 2013

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

scientific article published on January 2010

Intracellular oligomeric amyloid-beta rapidly regulates GluA1 subunit of AMPA receptor in the hippocampus.

scientific article published on 9 June 2015

Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients.

scientific article

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway

scientific article

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

article

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

scientific article

Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.

scientific article published on January 1993

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

scientific article

Localization and trafficking of endogenous anterior pharynx-defective 1, a component of Alzheimer's disease related gamma-secretase

scientific article published on 30 July 2010

Long-term statin therapy and CSF cholesterol levels: implications for Alzheimer's disease.

scientific article published on 29 May 2009

Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis

scientific article

Loss of nicastrin elicits an apoptotic phenotype in mouse embryos

scientific article

Massachusetts Alzheimer's Disease Research Center: progress and challenges

scientific article

Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins

scientific article

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

scientific article

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

scientific article

Microbleed Topography, Leukoaraiosis, and Cognition in Probable Alzheimer Disease From the Sunnybrook Dementia Study

scholarly article by Jacqueline A. Pettersen et al published 1 June 2008 in Archives of Neurology

Microglial activation in brain lesions with tau deposits: comparison of human tauopathies and tau transgenic mice TgTauP301L.

scientific article

Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease

scientific article published in The Lancet

Molecular biology and genetics of Alzheimer's disease

scientific article

Molecular genetics of Alzheimer's disease.

scientific article

Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins.

scientific article

Molecular genetics of familial Alzheimer's disease

scientific article

Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs.

scientific article published in November 1992

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

scientific article

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

scientific article

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

scientific article published in June 2000

Neprilysin activity and expression are controlled by nicastrin

scientific article

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

scientific article published in September 2005

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing

scientific article

No association between apolipoprotein E genotype and late-onset depression in Alzheimer's disease.

scientific article published in January 1997

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

scientific article published in June 2004

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

scientific article published on 9 October 2006

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells

scientific article published on 8 November 2007

Potential roles for presenilin-1 in oxygen sensing and in glial-specific gene expression

scientific article published in September 2004

Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain

scientific journal article

Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch

scientific article published on 15 July 2002

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

article by Marcia B. Podlisny et al published January 1997 in Neurobiology of Disease

Presenilin structure, function and role in Alzheimer disease.

scientific article published in July 2000

Presenilin-1 holoprotein is an interacting partner of sarco endoplasmic reticulum calcium-ATPase and confers resistance to endoplasmic reticulum stress

scientific article

Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically

scientific article published in November 2000

Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.

scientific article published on June 2006

Presenilin-directed inhibitors of gamma-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells

scientific article

Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4

scientific article published on 29 October 2010

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

scientific article

Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease

scientific article published on February 1, 1992

Pulmonary malakoplakia ⬇️

scientific article published on January 1, 1984

Pyroglutamate-3 amyloid-β deposition in the brains of humans, non-human primates, canines, and Alzheimer disease-like transgenic mouse models

scientific article published on 07 June 2013

Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.

scientific article

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article

Rare individual amyloid-β oligomers act on astrocytes to initiate neuronal damage

scientific article published on 09 April 2014

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

scientific article

Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease

scientific article published in July 2002

Reentrant liquid condensate phase of proteins is stabilized by hydrophobic and non-ionic interactions

scientific article published on 17 February 2021

Regulatory RNA goes awry in Alzheimer's disease

scientific article published in July 2008

Response to Correspondence: Pardossi-Piquard et al., “Presenilin-Dependent Transcriptional Control of the Aβ-Degrading Enzyme Neprilysin by Intracellular Domains of βAPP and APLP.” Neuron 46, 541–554

article

Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits

scientific article

Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts

scientific article published on 15 February 2013

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

scientific article

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

scientific article

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

scientific article

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

scientific article published on 12 September 2012

Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.

scientific article published in November 1992

Single-molecule imaging reveals that small amyloid-β1-42 oligomers interact with the cellular prion protein (PrP(C))

scientific article

Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects.

scientific article published in November 2007

Structural biology of presenilin 1 complexes

scientific article

Structural interactions between inhibitor and substrate docking sites give insight into mechanisms of human PS1 complexes

scientific article

Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2.

scientific article

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease

scientific article published on October 2006

TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

scientific article

TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin

scientific article

TMP21 transmembrane domain regulates gamma-secretase cleavage

scientific article

TREM2 Variants in Alzheimer's Disease

scientific article

Targeting the amyloid-β antibody in the brain tissue of a mouse model of Alzheimer's disease

scientific article published on 30 December 2011

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

scientific article published on 21 September 2016

The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort

scientific article published on April 2007

The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease

scientific article published in May 2010

The effects of APOE and tau gene variability on risk of frontotemporal dementia

article

The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53.

scientific article published on September 2007

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

scientific article

The genetics of adult-onset neuropsychiatric disease: complexities and conundra?

scientific article

The human NACP/α-synuclein gene: chromosome assignment to 4q21.3–q22 and TaqI RFLP analysis ⬇️

scientific article published on March 20, 1995

The in vivo brain interactome of the amyloid precursor protein

scientific journal article

The isotropic fractionator provides evidence for differential loss of hippocampal neurons in two mouse models of Alzheimer's disease

scientific article published on 22 November 2012

The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein

scientific article published on December 2002

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

scientific article

The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities

scientific article published on 30 April 2004

Therapeutic effects of remediating autophagy failure in a mouse model of Alzheimer disease by enhancing lysosomal proteolysis.

scientific article

Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis.

scientific article published on 15 October 2002

Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families

article

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

scientific article published on 6 February 2017

Transient abundance of presenilin 1 fragments/nicastrin complex associated with synaptogenesis during development in rat cerebellum

scientific article published on 31 March 2005

Vigilin interacts with signal peptide peptidase

scientific article

Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes

scientific article published on October 2012

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

scientific article

Wild-type and mutated nicastrins do not display aminopeptidase M- and B-like activities.

scientific article

Will anti-amyloid therapies work for Alzheimer's disease?

scientific article

gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in?

scientific article

p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity

scientific article published on 2 February 2007

p53-Dependent transcriptional control of cellular prion by presenilins. ⬇️

scientific article

p53-dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent gamma-secretase complex

scientific article

δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes

scientific article

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