Presenilin-2 (PSEN2) is one of two highly homologous presenilin genes expressed in vertebrates. Presenilin-1 (PSEN1) has been more extensively studied in Alzheimer’s research because …

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset …

2025年2月24日 · The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol. 2010 May;67(5):631-3. PubMed. Müller U, Winter P, Graeber …

2024年7月1日 · PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort. J Alzheimers Dis. 2022;87(4):1549 …

2024年5月23日 · Consistent with these findings, computer simulations of the structure and function of PSEN2 predicted this variant increases the size of the active site pocket which is …

2024年5月23日 · M239I was the third missense mutation in PSEN2 to be associated with Alzheimer's disease. Reported first in an Italian family in 2000 ( Finckh et al., 2000 ), it has …

2022年2月22日 · Similarly, when co-transfected with APP carrying the Swedish mutation, D439A-PSEN2 did not affect Aβ42 levels or the Aβ42/Aβ40 ratio (Walker et al., 2005). However, a …

2022年2月22日 · PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. Alzheimers Dement. 2020 Jan;16(1):178-191. PubMed. Hsu JL, Lin CH, …

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Med. 2017 Mar;14(3):e1002270. Epub 2017 Mar 28 …

2024年12月20日 · When PSEN2 is missing entirely, a build-up of β-CTF is likely the prime instigator. Without PSEN2. When PSEN2 is mutated or deleted, endolysosomal trafficking …