Associated Papers
Mitochondrial dysfunction and Ca2+ dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism.
Wilson C et al.
Scientific Reports, 2026
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Chemical imaging delineates Aβ plaque polymorphism across the Alzheimer's disease spectrum.
Koutarapu S et al.
Nature Communications, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 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
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 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
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
Pathological manifestation of the induced pluripotent stem cell-derived cortical neurons from an early-onset Alzheimer's disease patient carrying a presenilin-1 mutation (S170F).
Li L et al.
Cell Proliferation, 2020
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Kim YE et al.
Scientific Reports, 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
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2019
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia.
Li L et al.
Experimental Neurobiology, 2018
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
Bagyinszky E et al.
International Journal of Molecular Sciences, 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
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.
Weston PSJ et al.
Neurology, 2017
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
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
Cerebral microbleeds in familial Alzheimer's disease.
Ryan NS et al.
Brain : a Journal of Neurology, 2012
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.
Lindquist SG et al.
Clinical Genetics, 2009
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
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
Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, Abeta40, in sporadic and familial Alzheimer's disease.
Thaker U et al.
Neuropathology and Applied Neurobiology, 2003
Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease.
Cervantes S et al.
Febs Letters, 2001
Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes.
Warrington EK et al.
Journal of Neurology, 2001
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Gómez-Isla T et al.
Brain : a Journal of Neurology, 1999
ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.
Houlden H et al.
American Journal of Medical Genetics, 1998
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
Poorkaj P et al.
Human Mutation, 1998
Amyloid precursor protein heat shock response in lymphoblastoid cell lines bearing presenilin-1 mutations.
Johnston JA et al.
Biochimica Et Biophysica Acta, 1997
A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.
Forsell C et al.
Neuroscience Letters, 1997
Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Current Opinion in Neurology, 1996
The presenilin genes: a new gene family involved in Alzheimer disease pathology.
Cruts M et al.
Human Molecular Genetics, 1996
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0
Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations.
Lleó A et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 0
[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].
Lladó A et al.
Neurologia (barcelona, Spain), 0
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).
Reznik-Wolf H et al.
European Journal of Human Genetics : Ejhg, 0