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

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...

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Detalles Bibliográficos
Autores principales: Sawaguchi, Sui, Suzuki, Rimi, Oizumi, Hiroaki, Ohbuchi, Katsuya, Mizoguchi, Kazushige, Yamamoto, Masahiro, Miyamoto, Yuki, Yamauchi, Junji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884015/
https://www.ncbi.nlm.nih.gov/pubmed/35225888
http://dx.doi.org/10.3390/neurolint14010018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884015/
https://www.ncbi.nlm.nih.gov/pubmed/35225888
http://dx.doi.org/10.3390/neurolint14010018

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