Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen

• Autors principals: Sui Sawaguchi (Autor), Kenji Tago (Autor), Hiroaki Oizumi (Autor), Katsuya Ohbuchi (Autor), Masahiro Yamamoto (Autor), Kazushige Mizoguchi (Autor), Yuki Miyamoto (Autor), Junji Yamauchi (Autor)
• Format: Llibre
• Publicat: MDPI AG, 2021-12-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Hypomyelinating leukodystrophy 7 (HLD7) is an autosomal recessive oligodendroglial cell-related myelin disease, which is associated with some nucleotide mutations of the RNA polymerase 3 subunit a (polr3a) gene. POLR3A is composed of the catalytic core of RNA polymerase III synthesizing non-coding R...