Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Presenilin-1 Familial Alzheimer Mutations Impair γ-Secretase Cleavage of APP Through Stabilized Enzyme-Substrate Complex Formation.
Devkota S et al.
Biomolecules, 2025
Mutations in PSEN1 predispose inflammation in an astrocyte model of familial Alzheimer's disease through disrupted regulated intramembrane proteolysis.
Ziff OJ et al.
Molecular Neurodegeneration, 2025
Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.
Wang D et al.
Journal of Alzheimer's Disease : Jad, 2025
The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Arber C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Molecular mechanism of substrate recognition and cleavage by human γ-secretase.
Guo X et al.
Science (new York, N.y.), 2024
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.
Chong CM et al.
Cell & Bioscience, 2022
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
Mass spectrometry analysis of tau and amyloid-beta in iPSC-derived models of Alzheimer's disease and dementia.
Arber C et al.
Journal of Neurochemistry, 2021
Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions.
Szaruga M et al.
Cell, 2021
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Arber C et al.
Molecular Psychiatry, 2020
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A et al.
Journal of Neuropathology and Experimental Neurology, 2020
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.
Zhang S et al.
Frontiers in Psychiatry, 2020
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
A cellular complex of BACE1 and γ-secretase sequentially generates Aβ from its full-length precursor.
Liu L et al.
The Journal of Cell Biology, 2019
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2018
Accelerated long-term forgetting in presymptomatic autosomal dominant Alzheimer's disease: a cross-sectional study.
Weston PSJ et al.
The Lancet. Neurology, 2018
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.
Zhou R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.
Weston PSJ et al.
Neurology, 2017
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.
Szaruga M et al.
Cell, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
γ-Secretase Modulators and APH1 Isoforms Modulate γ-Secretase Cleavage but Not Position of ε-Cleavage of the Amyloid Precursor Protein (APP).
Lessard CB et al.
Plos One, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.
Ryan NS et al.
Brain : a Journal of Neurology, 2013
The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.
Chávez-Gutiérrez L et al.
The Embo Journal, 2012
Cerebral microbleeds in familial Alzheimer's disease.
Ryan NS et al.
Brain : a Journal of Neurology, 2012
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 2012
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Wray S et al.
Plos One, 2012
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
Pennington PR et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2011
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Presenilin-1 D257A and D385A mutants fail to cleave Notch in their endoproteolyzed forms, but only presenilin-1 D385A mutant can restore its gamma-secretase activity with the compensatory overexpression of normal C-terminal fragment.
Kim H et al.
The Journal of Biological Chemistry, 2005
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh U et al.
Neurogenetics, 2005
One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease.
Jia J et al.
Journal of Alzheimer's Disease : Jad, 2005
Amino- and carboxyl-terminal mutants of presenilin 1 cause neuronal cell death through distinct toxic mechanisms: Study of 27 different presenilin 1 mutants.
Hashimoto Y et al.
Journal of Neuroscience Research, 2004
Secrets of a secretase: N-cadherin proteolysis regulates CBP function.
Rao VR et al.
Cell, 2003