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
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf
Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.
Chong CM et al.
Cell & Bioscience, 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora MI et al.
International Journal of Molecular Sciences, 2022
35457051 (PubMed )
Supplement: ijms-23-04230-s001.zip › ijms-1660070-supplementary.pdf
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.
Gao Y 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
30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx
Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.
Cai T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 2014
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B et al.
Neurobiology of Aging, 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-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
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