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 …

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 …

Jul 11, 2002 · APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. Front Aging Neurosci. 2021;13:695808. Epub 2021 …

Jul 8, 2024 · 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 …

Mar 4, 2022 · 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 …

Feb 14, 2024 · Additional cellular functions have been reported to be impaired in cells expressing this mutant. For example, compared with cells expressing wild-type PSEN1, neurite outgrowth …

Aug 11, 2022 · These findings were confirmed and extended in a study of human embryonic kidney cells lacking endogenous PSEN1/PSEN2 and expressing M146V showing that the …

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 …

Jan 10, 2018 · 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 …

Jun 21, 2018 · 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 …