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
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.
Mintoff D et al.
Frontiers in Genetics, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
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
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.
Fraering PC
Current Genomics, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
Wang J et al.
Journal of Neurochemistry, 2006
Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and gamma-secretase activity.
Brunkan AL et al.
Journal of Neurochemistry, 2005
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 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
[Mutation site of presenilin-1 gene in familial Alzheimer's disease].
Xu E et al.
Zhonghua Yi Xue Za Zhi, 2002
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
Queralt R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2002
Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1.
Murayama O et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 1999
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.
Sato S et al.
Human Mutation, 1998
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
Kamino K et al.
Neuroscience Letters, 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