FTD/ALS Type 7-Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator

Frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (FTD/ALS7) is an autosomal dominant neurodegenerative disorder characterized by the onset of FTD and/or ALS, mainly in adulthood. Patients with some types of mutations, including the Thr104Asn (T104N) mutation of charged multivesicu...

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Autores principales: Shirai, Remina, Cho, Mizuka, Isogai, Mikinori, Fukatsu, Shoya, Okabe, Miyu, Okawa, Maho, Miyamoto, Yuki, Torii, Tomohiro, Yamauchi, Junji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443297/
https://www.ncbi.nlm.nih.gov/pubmed/37606396
http://dx.doi.org/10.3390/neurolint15030063

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