Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Abstract
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 approach with exome sequencing, we...
Paper Details
Title
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Published Date
May 1, 2019
Journal
Volume
28
Issue
17
Pages
2900 - 2919
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History