Associated Papers
Mitochondrial dysfunction and Ca2+ dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism.
Wilson C et al.
Scientific Reports, 2026
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
Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques.
Yamagata HD et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Heparan sulfate modified proteins affect cellular processes central to neurodegeneration and modulate presenilin function.
Schultheis N et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
APOE ε4 allele, along with G206D-PSEN1 mutation, alters mitochondrial networks and their degradation in Alzheimer's disease.
Costa-Laparra I et al.
Frontiers in Aging Neuroscience, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
γ-secretase promotes Drosophila postsynaptic development through the cleavage of a Wnt receptor.
Restrepo LJ et al.
Developmental Cell, 2022
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.
Hsu JL et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.
Lin YS et al.
Scientific Reports, 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
Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation.
Díaz-Guerra E et al.
Stem Cell Research, 2019
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
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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
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
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
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
Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.
Dobricic V et al.
Neurobiology of Aging, 2012
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.
Wu YY et al.
Journal of Alzheimer's Disease : Jad, 2011
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