Dataset Information

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf^ash 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 changes remains one of the major challenges in the modern genomic era. This aspect has also to be taken into account during the pre-clinical evaluation of innovative therapeutic approaches in animal models of human diseases. This is of particular relevance when developing therapeutics acting on splicing, an intriguing and expanding research area for several disorders. Here, we addressed species-specific splicing mechanisms triggered by the OTC c.386G>A mutation, relatively frequent in humans, lea

SUBMITTER: Sacchetto C

PROVIDER: S-EPMC8670272 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Dataset Information

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

Background

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

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.

Background

OmicsDI is part of the ELIXIR infrastructure

Tweets

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