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 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.
Chong CM et al.
Cell & Bioscience, 2022
Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.
Quan M et al.
Alzheimer's Research & Therapy, 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
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
Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.
Cai T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
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
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 2014
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B et al.
Neurobiology of Aging, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
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
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Raux G et al.
Journal of Medical Genetics, 2005