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A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant

artículo científico publicado en 2014

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

artículo científico publicado en 2018

An organellar nα-acetyltransferase, naa60, acetylates cytosolic N termini of transmembrane proteins and maintains Golgi integrity

scientific journal article

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

artículo científico publicado en 2014

Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific Acetylation

scientific journal article

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

artículo científico publicado en 2015

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

artículo científico publicado en 2016

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.

artículo científico publicado en 2018

NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

artículo científico publicado en 2015

Naa10 in development and disease.

artículo científico publicado en 2015

Protein N-terminal acetyltransferases act as N-terminal propionyltransferases in vitro and in vivo

artículo científico publicado en 2013

Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.

artículo científico publicado en 2018

Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants

artículo científico publicado en 2023

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