Associated Papers
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
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
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
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and 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
Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.
Sasaguri H et al.
Nature Communications, 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
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Highly pathogenic Alzheimer's disease presenilin 1 P117R mutation causes a specific increase in p53 and p21 protein levels and cell cycle dysregulation in human lymphocytes.
Bialopiotrowicz E et al.
Journal of Alzheimer's Disease : Jad, 2012
Gamma-secretase gene mutations in familial acne inversa.
Wang B et al.
Science (new York, N.y.), 2010
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
Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.
Kauwe JS et al.
Neuroscience Letters, 2008
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction.
Jozwiak K et al.
Journal of Neurochemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.
Dowjat WK et al.
Journal of Alzheimer's Disease : Jad, 2004
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
Zekanowski C et al.
Experimental Neurology, 2003
Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.
Liu L et al.
The Journal of Biological Chemistry, 0