Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation

Pelizaeus–Merzbacher disease (PMD), also known as hypomyelinating leukodystrophy 1 (HLD1), is an X-linked recessive disease affecting in the central nervous system (CNS). The gene responsible for HLD1 encodes proteolipid protein 1 (plp1), which is the major myelin structural protein produced by olig...

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Detalles Bibliográficos
Autores principales: Sawaguchi, Sui, Goto, Mizuki, Kato, Yukino, Tanaka, Marina, Tago, Kenji, Oizumi, 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/PMC8037150/
https://www.ncbi.nlm.nih.gov/pubmed/33805425
http://dx.doi.org/10.3390/polym13071074

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