Associated Papers
Neurodegenerative disease and autophagy in iPSC-based models.
Odonchimed S et al.
Neuroscience Research, 2026
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Alzheimer's disease clinical variants show distinct neuroinflammatory profiles with neuropathology.
Boon BDC et al.
Neuropathology and Applied Neurobiology, 2024
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes.
van Heusden FC et al.
Alzheimer's Research & Therapy, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
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
Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing.
Sun L et al.
Frontiers in Aging Neuroscience, 2021
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Arber C et al.
Molecular Psychiatry, 2020
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Park JE et al.
Neurobiology of Aging, 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
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 2019
Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.
Ramos EM 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
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Wu YY et al.
Open Biology, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer's Disease.
Hung COY et al.
Cell Reports, 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
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
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
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
Moore S et al.
Cell Reports, 2015
Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.
Takagi-Niidome S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.
Riudavets MA et al.
Brain Pathology (zurich, Switzerland), 2013
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 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
Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.
Knight WD et al.
Brain : a Journal of Neurology, 2011
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations.
Albrecht S et al.
Journal of Neuropathology and Experimental Neurology, 2009
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.
Maarouf CL et al.
Molecular Neurodegeneration, 2008
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.
Sleegers K et al.
Brain : a Journal of Neurology, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
De Jonghe C et al.
Human Molecular Genetics, 1999
Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases.
van de Craen M et al.
Febs Letters, 1999
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M et al.
Human Molecular Genetics, 1998
A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.
van Duijn CM et al.
American Journal of Human Genetics, 1994
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0