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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Brain
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2019
Aiheet:
Short Report
Linkit: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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