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
Selective ferroptosis vulnerability due to familial Alzheimer's disease presenilin mutations.
Greenough MA et al.
Cell Death and Differentiation, 2022
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
A third-generation mouse model of Alzheimer's disease shows early and increased cored plaque pathology composed of wild-type human amyloid β peptide.
Sato K et al.
The Journal of Biological Chemistry, 2021
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
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
Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.
Al Rahim M et al.
Brain Communications, 2020
Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Han LH et al.
Clinical Interventions in Aging, 2020
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
Identification of Small Peptides in Human Cerebrospinal Fluid upon Amyloid-β Degradation.
Mizuta N et al.
Neuro-degenerative Diseases, 2017
A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.
Dong J et al.
Journal of Alzheimer's Disease : Jad, 2017
Presenilin 1 promotes trypsin-induced neuroprotection via the PAR2/ERK signaling pathway. Effects of presenilin 1 FAD mutations.
Nikolakopoulou AM et al.
Neurobiology of Aging, 2016
Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.
Tominaga A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Szaruga M et al.
The Journal of Experimental Medicine, 2015
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
Kasuga K et al.
Journal of Human Genetics, 2015
γ-Secretase Modulators and APH1 Isoforms Modulate γ-Secretase Cleavage but Not Position of ε-Cleavage of the Amyloid Precursor Protein (APP).
Lessard CB et al.
Plos One, 2015
Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.
Fernandez MA et al.
The Journal of Biological Chemistry, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Val97Leu mutant presenilin-1 induces tau hyperphosphorylation and spatial memory deficit in mice and the underlying mechanisms.
Wang Y et al.
Journal of Neurochemistry, 2012
Presenilin1/gamma-secretase promotes the EphB2-induced phosphorylation of ephrinB2 by regulating phosphoprotein associated with glycosphingolipid-enriched microdomains/Csk binding protein.
Georgakopoulos A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Potent amyloidogenicity and pathogenicity of Aβ43.
Saito T et al.
Nature Neuroscience, 2011
Immunotherapy targeting pathological tau prevents cognitive decline in a new tangle mouse model.
Boutajangout A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
Modeling presenilin-dependent familial Alzheimer's disease: emphasis on presenilin substrate-mediated signaling and synaptic function.
Parent AT et al.
International Journal of Alzheimer's Disease, 2010
The 28-amino acid form of an APLP1-derived Abeta-like peptide is a surrogate marker for Abeta42 production in the central nervous system.
Yanagida K et al.
Embo Molecular Medicine, 2009
Purification, pharmacological modulation, and biochemical characterization of interactors of endogenous human gamma-secretase.
Winkler E et al.
Biochemistry, 2009
Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation.
Fluhrer R et al.
The Journal of Biological Chemistry, 2008
Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta.
Shimojo M et al.
The Journal of Biological Chemistry, 2008
Deficits in working memory and motor performance in the APP/PS1ki mouse model for Alzheimer's disease.
Wirths O et al.
Neurobiology of Aging, 2008
Wild-type but not FAD mutant presenilin-1 prevents neuronal degeneration by promoting phosphatidylinositol 3-kinase neuroprotective signaling.
Baki L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Decreased Abeta secretion by cells expressing familial Alzheimer's disease-linked mutant presenilin 1.
Shimojo M et al.
Neuroscience Research, 2007
Presenilin diversifies its portfolio.
Parks AL et al.
Trends in Genetics : Tig, 2007
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease.
Kimura R et al.
Human Molecular Genetics, 2007
Pathological and physiological functions of presenilins.
Vetrivel KS et al.
Molecular Neurodegeneration, 2006
Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1).
Tanemura K et al.
The Journal of Biological Chemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.
Wang HQ et al.
Human Molecular Genetics, 2005
Induction of neuronal death by ER stress in Alzheimer's disease.
Katayama T et al.
Journal of Chemical Neuroanatomy, 2004
PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations.
Baki L et al.
The Embo Journal, 2004
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
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
Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations.
Katayama T et al.
The Journal of Biological Chemistry, 2001
The unfolded protein response and Alzheimer's disease.
Imaizumi K et al.
Biochimica Et Biophysica Acta, 2001
Presenilin-1 P264L knock-in mutation: differential effects on abeta production, amyloid deposition, and neuronal vulnerability.
Siman R et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2000
Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response.
Katayama T et al.
Nature Cell Biology, 1999
Accumulation of murine amyloidbeta42 in a gene-dosage-dependent manner in PS1 'knock-in' mice.
Nakano Y et al.
The European Journal of Neuroscience, 1999