PSEN1 encodes presenilin-1, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. More than 300 mutations in PSEN1 have been reported and mutations in PSEN1 are the most common cause of early onset Alzheimer's disease. PDF (1.24 MB)

View PSEN1 on AlzGene. Mutations. Mutations in PSEN1 are a common cause of familial early onset Alzheimer's disease. Research Models. View mouse models with modifications in PSEN1 in the Research Models database. Therapeutics. View therapeutics that target γ-secretase in the Therapeutics database.

2002年7月11日 · APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. Front Aging Neurosci. 2021;13:695808. Epub 2021 Jun 18 PubMed. Frederiksen HR, Holst B, Mau-Holzmann UA, Freude K, Schmid B. Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the …

2025年3月18日 · The PSEN1 ΔE9 mutations include three deletion mutations, one insertion mutation, and three splice-site mutations within intron 8. Despite their heterogeneity, they all result in the absence of exon 9 from transcripts and the production of presenilin protein lacking a region of about 30 amino acids.

PSEN1. PSEN1 encodes presenilin-1, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. More than 300 mutations in PSEN1 have been reported and mutations in PSEN1 are the most common cause of early onset Alzheimer's disease.

2022年3月4日 · The H163R mutation was first described in 1995 in conjunction with the cloning of the PSEN1 gene. It was detected in two families, one American (Pedigree 603) and one French-Canadian (Tor42). The mutation was shown to segregate with early onset familial Alzheimer’s disease in both families, the latter with onset around 45 years of age ...

2025年3月18日 · A summary of research models that express PSEN1 lacking exon 9 can be found at: PSEN1 ΔE9 Mutants (below the table). Last Updated: 18 Mar 2025. Comments. No Available Comments. Make a Comment. To make a comment you must login or register. References Paper Citations. Sato S, Kamino K, Miki T, Doi A, Ii K, St George-Hyslop PH, …

2018年6月21日 · Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease. Neurobiol Aging. 2019 May;77:154-157. Epub 2019 Jan 31 PubMed. Lin YS, Cheng CY, Liao YC, Hong CJ, Fuh JL. Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile. Sci Rep. 2020 Nov 13;10(1):19769 ...

2025年2月24日 · PSEN1 L166P may also have a dominant-negative effect on wild-type PSEN1 as suggested by the suppression of Aβ production by wild-type PSEN1 in the presence of the mutant protein in vitro. The effect was specifically sensitive to a detergent that disrupts PSEN1 oligomerization, indicating the mutant may disrupt wild-type activity via hetero ...

2018年1月10日 · A cryo-electron microscopy study of the atomic structure of γ-secretase bound to an APP fragment indicated that, in wild-type PSEN1, this residue is apposed to the APP transmembrane helix, with its side-chain reaching towards the interior of the substrate-binding pore (Zhou et al., 2019; Jan 2019 news).