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

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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Bibliographic Details
Main Authors: Sui Sawaguchi, Mizuki Goto, Yukino Kato, Marina Tanaka, Kenji Tago, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Polymers
Subjects:
Pelizaeus–Merzbacher disease
EPRS1
Rab7
oligodendrocyte
differentiation
myelination
Online Access:https://www.mdpi.com/2073-4360/13/7/1074

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