Associated Papers
Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.
De la Sen-Domínguez M et al.
Journal of Clinical Medicine, 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
Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.
Jih KY et al.
Alzheimer's Research & Therapy, 2025
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
In Silico Structural Analysis Exploring Conformational Folding of Protein Variants in Alzheimer's Disease.
Efraimidis E et al.
International Journal of Molecular Sciences, 2023
Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.
Chandy T
Dementia & Neuropsychologia, 2023
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
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
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
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
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
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
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
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 2012
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
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
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Dumanchin C et al.
Human Mutation, 2006