OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

Abstract Background Aberrant splicing is a common outcome in the presence of exonic or intronic variants that might hamper the intricate network of interactions defining an exon in a specific gene context. Therefore, the evaluation of the functional, and potentially pathological, role of nucleotide...

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Bibliographic Details
Main Authors: Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra
Format: Article
Language:English
Published: BMC 2021-12-01
Series:Molecular Medicine
Subjects:
OTC deficiency
Pathogenic mRNA splicing
Spfash mouse model
Nucleotide variations
U1snRNA
Online Access:https://doi.org/10.1186/s10020-021-00418-9

Internet

https://doi.org/10.1186/s10020-021-00418-9

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