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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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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Balestra, Dario, Ferrarese, Mattia, Lombardi, Silvia, Ziliotto, Nicole, Branchini, Alessio, Petersen, Naomi, Bosma, Piter, Pinotti, Mirko, van de Graaf, Stan F. J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7699343/
https://ncbi.nlm.nih.gov/pubmed/33228018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21228735
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