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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Bibliografiska uppgifter
I publikationen:Neurol Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7577547/
https://ncbi.nlm.nih.gov/pubmed/33134519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000524
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