POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

OBJECTIVE: To further clarify the molecular pathogenesis of RNA polymerase III (Pol III)-related leukodystrophy caused by biallelic POLR1C variants at a cellular level and potential effects on its downstream genes. METHODS: Exome analysis and molecular functional studies using cell expression and lo...

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Detalles Bibliográficos
Autores principales: Kashiki, Hitoshi, Li, Heng, Miyamoto, Sachiko, Ueno, Hiroe, Tsurusaki, Yoshinori, Ikeda, Chizuru, Kurata, Hirofumi, Okada, Takumi, Shimazu, Tomoyuki, Imamura, Hoseki, Enomoto, Yumi, Takanashi, Jun-ichi, Kurosawa, Kenji, Saitsu, Hirotomo, Inoue, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577547/
https://www.ncbi.nlm.nih.gov/pubmed/33134519
http://dx.doi.org/10.1212/NXG.0000000000000524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577547/
https://www.ncbi.nlm.nih.gov/pubmed/33134519
http://dx.doi.org/10.1212/NXG.0000000000000524

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