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

Abstract 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 enc...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2019-06-01
Colecção:	Molecular Brain
Assuntos:	Leukodystrophy RNA polymerase III Mouse model POLR3A POLR3B Myelination
Acesso em linha:	http://link.springer.com/article/10.1186/s13041-019-0479-7
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!