Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Abstract Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of transfer R...

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Main Authors: Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Molecular Brain
Subjects:
Leukodystrophy
POLR3A
Mouse model
Hypomyelination
RNA Polymerase III
Transfer RNAs
Online Access:http://link.springer.com/article/10.1186/s13041-017-0294-y

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