Article
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Molecular brain - 13 Apr 2017
Choquet Karine, Yang Sharon, Moir Robyn D, Forget Diane, Larivière Roxanne, Bouchard Annie, Poitras Christian, Sgarioto Nicolas, Dicaire Marie-Josée, Noohi Forough, Kennedy Timothy E, Rochford Joseph, Bernard Geneviève, Teichmann Martin, Coulombe Benoit, Willis Ian M, Kleinman Claudia L, Brais Bernard
Abstract excerpt
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 RNAs (tRNAs) and a large array of other small non-coding RNAs. In order to study the central nervous system pathophysiology of...
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