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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Pubblicato in:Biochem Biophys Rep
Autori principali: Matsumoto, Naoto, Watanabe, Natsumi, Iibe, Noriko, Tatsumi, Yuriko, Hattori, Kohei, Takeuchi, Yu, Oizumi, Hiroaki, Ohbuchi, Katsuya, Torii, Tomohiro, Miyamoto, Yuki, Yamauchi, Junji
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849085/
https://ncbi.nlm.nih.gov/pubmed/31737794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrep.2019.100705
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