Cargando…
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...
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 |
Ejemplares similares
-
Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen
por: Sawaguchi, Sui, et al.
Publicado: (2022) -
Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation
por: Sawaguchi, Sui, et al.
Publicado: (2021) -
Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation
por: Torii, Tomohiro, et al.
Publicado: (2022) -
Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation
por: Matsumoto, Naoto, et al.
Publicado: (2019) -
Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi
por: Miyamoto, Yuki, et al.
Publicado: (2023)