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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.
Kim YE et al.
Scientific Reports, 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
Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer's Disease.
Vo VG et al.
Current Alzheimer Research, 2020
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 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
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
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
Upregulation of PGC-1α expression by Alzheimer's disease-associated pathway: presenilin 1/amyloid precursor protein (APP)/intracellular domain of APP.
Robinson A et al.
Aging Cell, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
PS dependent APP cleavage regulates glucosylceramide synthase and is affected in Alzheimer's disease.
Grimm MO et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2014
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.
Kretner B et al.
The Journal of Biological Chemistry, 2011
Intracellular APP Domain Regulates Serine-Palmitoyl-CoA Transferase Expression and Is Affected in Alzheimer's Disease.
Grimm MO et al.
International Journal of Alzheimer's Disease, 2011
Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.
Fukumori A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
The coat protein complex II, COPII, protein Sec13 directly interacts with presenilin-1.
Nielsen AL
Biochemical and Biophysical Research Communications, 2009
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation.
Page RM et al.
The Journal of Biological Chemistry, 2008
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
Larner AJ et al.
Journal of the Neurological Sciences, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 2005
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
O'Riordan S et al.
Neurology, 2002
FAD-linked mutations in presenilin 1 alter the length of Abeta peptides derived from betaAPP transmembrane domain mutants.
Murphy MP et al.
Biochimica Et Biophysica Acta, 2002
Alteration of the serotonergic nervous system in fatal familial insomnia.
Wanschitz J et al.
Annals of Neurology, 2000
[Mutation analysis of S182 (presenilin-I) in patients with familial Alzheimer's disease and its biological function].
Ikeda M
Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 1998
A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.
Aoki M et al.
Neurology, 1997
Clinical and molecular analysis of neurodegenerative diseases.
Abe K
The Tohoku Journal of Experimental Medicine, 1997
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.
Ikeda M et al.
Annals of Neurology, 1996
Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Current Opinion in Neurology, 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