
Presenilin-2 (PSEN2) - ALZFORUM
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 …
PSEN-2 | ALZFORUM
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 …
PSEN2 N141I (Volga) - ALZFORUM
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 …
PSEN2 M239T - ALZFORUM
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 …
PSEN2 M239V - ALZFORUM
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 …
PSEN2 M239I - ALZFORUM
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 …
PSEN2 D439A | ALZFORUM
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 …
PSEN2 V214L - ALZFORUM
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, …
PSEN2 T122P - ALZFORUM
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 …
Sans Presenilin-2, Lysosomes Struggle. Synapses, Memory Circuits …
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 …