The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin formation and cerebellar atrophy. POLR3A and POLR3B encode the t...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Brain
Auteurs principaux: Choquet, Karine, Pinard, Maxime, Yang, Sharon, Moir, Robyn D., Poitras, Christian, Dicaire, Marie-Josée, Sgarioto, Nicolas, Larivière, Roxanne, Kleinman, Claudia L., Willis, Ian M., Gauthier, Marie-Soleil, Coulombe, Benoit, Brais, Bernard
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6587292/
https://ncbi.nlm.nih.gov/pubmed/31221184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0479-7
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