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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation

Pelizaeus-Merzbacher disease (PMD) is a central nervous system (CNS) demyelinating disease in human, currently known as prototypic hypomyelinating leukodystrophy 1 (HLD1). The gene responsible for HLD1 encodes proteolipid protein 1 (PLP1), which is the major myelin protein produced by oligodendrocyt...

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Detalles Bibliográficos
Autores principales:	Matsumoto, Naoto, Watanabe, Natsumi, Iibe, Noriko, Tatsumi, Yuriko, Hattori, Kohei, Takeuchi, Yu, Oizumi, Hiroaki, Ohbuchi, Katsuya, Torii, Tomohiro, Miyamoto, Yuki, Yamauchi, Junji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849085/ https://www.ncbi.nlm.nih.gov/pubmed/31737794 http://dx.doi.org/10.1016/j.bbrep.2019.100705

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