Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

RNA polymerase III (Pol III) is an essential enzyme responsible for the synthesis of several small noncoding RNAs, a number of which are involved in mRNA translation. Recessive mutations in POLR3A, encoding the largest subunit of Pol III, cause POLR3-related hypomyelinating leukodystrophy (POLR3–HLD...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Choquet, Karine, Forget, Diane, Meloche, Elisabeth, Dicaire, Marie-Josée, Bernard, Geneviève, Vanderver, Adeline, Schiffmann, Raphael, Fabian, Marc R., Teichmann, Martin, Coulombe, Benoit, Brais, Bernard, Kleinman, Claudia L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2019
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6509492/
https://ncbi.nlm.nih.gov/pubmed/30898877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006271
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