Article

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy

2023-05-18

Abstract excerpt

<h4>SUMMARY</h4> Alanyl-transfer RNA synthetase 2 (AARS2) is a nuclear encoded mitochondrial tRNA synthetase that is responsible for charging of tRNA-Ala with alanine during mitochondrial translation. Homozygous or compound heterozygous mutations in the Aars2 gene, including those affecting its splicing, are linked to infantile cardiomyopathy in humans. However, how Aars2 regulates heart development, and the unde...

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Literature Corpus work: 84ae262c-bcd7-5e84-9e2f-e0dd6807e6a5
DOI: 10.1101/2023.05.18.540420

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