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

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...

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Detalles Bibliográficos
Autores principales: Sawaguchi, Sui, Tago, Kenji, Oizumi, Hiroaki, Ohbuchi, Katsuya, Yamamoto, Masahiro, Mizoguchi, Kazushige, Miyamoto, Yuki, Yamauchi, Junji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788570/
https://www.ncbi.nlm.nih.gov/pubmed/35076634
http://dx.doi.org/10.3390/neurolint14010002