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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

1 May 2019

Abstract excerpt

N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. The auxiliary and regulatory subunits of the NatA complex are NAA15 and Huntington-interacting protein (HYPK), respectively. Through a genotype-first...

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PMID: 31127942
DOI: 10.1093/hmg/ddz111

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