Article

Regulating <i>PCCA</i> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

2023-07-05

Abstract excerpt

Pseudoexons are nonfunctional intronic sequences that can be activated by deep intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a pseudoexon and causes the severe metabolic disorder, propionic acidemia, by deficiency of the propionyl-CoA carboxylase enzyme encoded by PCCA and PCCB . We character...

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Literature Corpus work: e7523271-b7ad-574c-b926-0c0b644d64ed
DOI: 10.1101/2023.07.05.547835

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