The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

Background: Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 gene. Methods: We observed that in mouse oligodendroglial FB...

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Detalles Bibliográficos
Autores principales: Hattori, Kohei, Tago, Kenji, Memezawa, Shiori, Ochiai, Arisa, Sawaguchi, Sui, Kato, Yukino, Sato, Takanari, Tomizuka, Kazuma, Ooizumi, Hiroaki, Ohbuchi, Katsuya, Mizoguchi, Kazushige, Miyamoto, Yuki, Yamauchi, Junji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912763/
https://www.ncbi.nlm.nih.gov/pubmed/33535532
http://dx.doi.org/10.3390/medicines8020009

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