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

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 (tRNA...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391615/
https://www.ncbi.nlm.nih.gov/pubmed/28407788
http://dx.doi.org/10.1186/s13041-017-0294-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391615/
https://www.ncbi.nlm.nih.gov/pubmed/28407788
http://dx.doi.org/10.1186/s13041-017-0294-y

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