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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Molecular Brain
Subjects:
Leukodystrophy
RNA polymerase III
Mouse model
POLR3A
POLR3B
Myelination
Online Access:http://link.springer.com/article/10.1186/s13041-019-0479-7

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