Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1

Presenilin-1 (PSEN1) is the catalytic subunit of the intramembrane protease γ-secretase and undergoes endoproteolysis during its maturation. Heterozygous mutations in the PSEN1 gene cause early-onset familial Alzheimer’s disease (eFAD) and increase the proportion of longer aggregation-prone amyloid-...

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Detalles Bibliográficos
Autores principales: Kurth, Vanessa, Ogorek, Isabella, Münch, Carolina, Lopez-Rios, Javier, Ousson, Solenne, Lehmann, Sandra, Nieweg, Katja, Roebroek, Anton J.M., Pietrzik, Claus U., Beher, Dirk, Weggen, Sascha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413157/
https://www.ncbi.nlm.nih.gov/pubmed/37394008
http://dx.doi.org/10.1016/j.jbc.2023.104997

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