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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...
Autores principales: | Sawaguchi, Sui, Suzuki, Rimi, Oizumi, Hiroaki, Ohbuchi, Katsuya, Mizoguchi, Kazushige, Yamamoto, Masahiro, Miyamoto, Yuki, Yamauchi, Junji |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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