The Clp1 R140H mutation alters tRNA metabolism and mRNA 3′ processing in mouse models of pontocerebellar hypoplasia

Homozygous mutation of the RNA kinase CLP1 (cleavage factor polyribonucleotide kinase subunit 1) causes pontocerebellar hypoplasia type 10 (PCH10), a pediatric neurodegenerative disease. CLP1 is associated with the transfer RNA (tRNA) splicing endonuclease complex and the cleavage and polyadenylatio...

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Detalles Bibliográficos
Autores principales: Monaghan, Caitlin E., Adamson, Scott I., Kapur, Mridu, Chuang, Jeffrey H., Ackerman, Susan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488643/
https://www.ncbi.nlm.nih.gov/pubmed/34548404
http://dx.doi.org/10.1073/pnas.2110730118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488643/
https://www.ncbi.nlm.nih.gov/pubmed/34548404
http://dx.doi.org/10.1073/pnas.2110730118

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