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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Main Authors: Naoto Matsumoto, Natsumi Watanabe, Noriko Iibe, Yuriko Tatsumi, Kohei Hattori, Yu Takeuchi, Hiroaki Oizumi, Katsuya Ohbuchi, Tomohiro Torii, Yuki Miyamoto, Junji Yamauchi
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Biochemistry and Biophysics Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2405580819300342