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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.
Novotny BC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Early-Onset Dementia-Parkinsonism with Rapid Development of Motor Fluctuations and Dyskinesia Due to PSEN1 G206V Pathogenic Variant.
Castillo-Torres SA et al.
Movement Disorders Clinical Practice, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
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
Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.
Pimenova AA et al.
Neurobiology of Disease, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.
Li YS et al.
Aging and Disease, 2019
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
Wang JC et al.
Neurobiology of Aging, 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
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 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
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
Chen WT et al.
Molecular Neurobiology, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Relative ratio and level of amyloid-β 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations.
Tagami S et al.
Neuro-degenerative Diseases, 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
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
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
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
Cercy SP et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 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
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
Doran M et al.
European Archives of Psychiatry and Clinical Neuroscience, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
Goldman JS et al.
International Journal of Geriatric Psychiatry, 2002