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
Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease.
Vöglein J et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Presenilin 1 mutation likely contributes to U1 small nuclear RNA dysregulation and Alzheimer's disease-like symptoms.
Cheng Z et al.
Neurobiology of Aging, 2021
Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.
Newman M et al.
Human Molecular Genetics, 2020
Transcriptomics in Alzheimer's Disease: Aspects and Challenges.
Bagyinszky E et al.
International Journal of Molecular Sciences, 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
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Braggin JE et al.
Annals of Clinical and Translational Neurology, 2019
Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.
Miki T et al.
Acta Neuropathologica Communications, 2019
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 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
Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.
Muenchhoff J et al.
Scientific Reports, 2016
Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer's Disease.
Jayne T et al.
Journal of Alzheimer's Disease : Jad, 2016
Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin.
Brautigam H et al.
Scientific Reports, 2015
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
Luedecke D et al.
Neuroscience Letters, 2014
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
Ahmadi S et al.
Neurobiology of Aging, 2014
Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors.
Sproul AA et al.
Plos One, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
A novel PS1 gene mutation in a large Aboriginal kindred.
Butler R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O et al.
Journal of Alzheimer's Disease : Jad, 2010
Variations in the neuropathology of familial Alzheimer's disease.
Shepherd C et al.
Acta Neuropathologica, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Cytoskeletal alterations differentiate presenilin-1 and sporadic Alzheimer's disease.
Woodhouse A et al.
Acta Neuropathologica, 2009
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
Nornes S et al.
Human Molecular Genetics, 2008
Identification of gamma-secretase inhibitor potency determinants on presenilin.
Zhao B et al.
The Journal of Biological Chemistry, 2008
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H et al.
Journal of Neurochemistry, 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
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Dumanchin C et al.
Human Mutation, 2006
Differences in regional brain atrophy in genetic forms of Alzheimer's disease.
Gregory GC et al.
Neurobiology of Aging, 2006
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
Potential role of presenilin-regulated signaling pathways in sporadic neurodegeneration.
Koo EH et al.
Nature Medicine, 2004
Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations.
Culvenor JG et al.
European Journal of Biochemistry, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: a clinicopathological study of four autopsy cases.
Yokota O et al.
Acta Neuropathologica, 2003
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
Kwok JB et al.
The Journal of Biological Chemistry, 2003
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001