An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency

OTC splicing mutations are generally associated with the severest and early disease onset of ornithine transcarbamylase deficiency (OTCD), the most common urea cycle disorder. Noticeably, splicing defects can be rescued by spliceosomal U1snRNA variants, which showed their efficacy in cellular and an...

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Detalles Bibliográficos
Autores principales: Balestra, Dario, Ferrarese, Mattia, Lombardi, Silvia, Ziliotto, Nicole, Branchini, Alessio, Petersen, Naomi, Bosma, Piter, Pinotti, Mirko, van de Graaf, Stan F. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699343/
https://www.ncbi.nlm.nih.gov/pubmed/33228018
http://dx.doi.org/10.3390/ijms21228735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699343/
https://www.ncbi.nlm.nih.gov/pubmed/33228018
http://dx.doi.org/10.3390/ijms21228735

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