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Protein N-terminal acetyltransferases act as N-terminal propionyltransferases in vitro and in vivo.De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesBiochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defectsA Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutantCrystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific AcetylationAn organellar nα-acetyltransferase, naa60, acetylates cytosolic N termini of transmembrane proteins and maintains Golgi integrityNAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyNaa10 in development and disease.Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-4329-3961
@en
name
Svein I Støve
@ast
Svein I Støve
@en
Svein I Støve
@nl
type
label
Svein I Støve
@ast
Svein I Støve
@en
Svein I Støve
@nl
prefLabel
Svein I Støve
@ast
Svein I Støve
@en
Svein I Støve
@nl
P106
P31
P496
0000-0002-4329-3961