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

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

<i>OTC</i> 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...

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Bibliographic Details
Main Authors: Dario Balestra, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Alessio Branchini, Naomi Petersen, Piter Bosma, Mirko Pinotti, Stan F. J. van de Graaf
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:International Journal of Molecular Sciences
Subjects:
ornithine transcarbamylase deficiency
OTCD
splicing
U1
mice
AAV
Online Access:https://www.mdpi.com/1422-0067/21/22/8735

Internet

https://www.mdpi.com/1422-0067/21/22/8735

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