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- 2018. Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80. Proceedings of the National Academy of Sciences of the United States of America. 4405-4410.
- 2018. 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. BMC Medical Genetics. 1-9.
- 2018. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. European Journal of Human Genetics. 1-12.
- 2016. Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency. Human Mutation. 755-764.
- 2016. Crystal structure of the Golgi-associated human N-alpha acetyltransferase 60 (Naa60/NatF) reveals the molecular determinants for substrate-specific acetylation. Structure. 1044-1056.
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- 2015. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics. 602-609.
- 2015. Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics. 1956-1976.
- 2015. An organellar Nα-acetyltransferase, Naa60, acetylates cytosolic n termini of transmembrane proteins and maintains golgi integrity. Cell reports. 1362-1374.
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