The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

<b>Background:</b> Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the <i>c11orf7</i>3 gene. <b>Methods...

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Bibliographic Details
Main Authors: Kohei Hattori, Kenji Tago, Shiori Memezawa, Arisa Ochiai, Sui Sawaguchi, Yukino Kato, Takanari Sato, Kazuma Tomizuka, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Medicines
Subjects:
leukoencephalopathy
HLD13
C11orf73
Filamin A
oligodendrocyte differentiation
Online Access:https://www.mdpi.com/2305-6320/8/2/9

Internet

https://www.mdpi.com/2305-6320/8/2/9

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