Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen

• Үндсэн зохиолчид: Sui Sawaguchi (Зохиогч), Rimi Suzuki (Зохиогч), Hiroaki Oizumi (Зохиогч), Katsuya Ohbuchi (Зохиогч), Kazushige Mizoguchi (Зохиогч), Masahiro Yamamoto (Зохиогч), Yuki Miyamoto (Зохиогч), Junji Yamauchi (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2022-02-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

POLR3B and POLR3A are the major subunits of RNA polymerase III, which synthesizes non-coding RNAs such as tRNAs and rRNAs. Nucleotide mutations of the RNA polymerase 3 subunit b (polr3b) gene are responsible for hypomyelinating leukodystrophy 8 (HLD8), which is an autosomal recessive oligodendroglia...