Article
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
International journal of molecular sciences - 19 Nov 2020
Balestra Dario, Ferrarese Mattia, Lombardi Silvia, Ziliotto Nicole, Branchini Alessio, Petersen Naomi, Bosma Piter, Pinotti Mirko, van de Graaf Stan F J
Abstract excerpt
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 animal models. Here, we challenged an U1snRNA variant in the OTCD mouse model (spf/ash) carrying the mutation c.386G >...
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