Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

doi:10.1038/s41431-023-01368-y

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Article

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

European journal of human genetics : EJHG - 1 Jul 2023

Lyon Gholson J, Vedaie Marall, Beisheim Travis, Park Agnes, Marchi Elaine, Gottlieb Leah, Hsieh Tzung-Chien, Klinkhammer Hannah, Sandomirsky Katherine, Cheng Hanyin, Starr Lois J, Preddy Isabelle, Tseng Marcellus, Li Quan, Hu Yu, Wang Kai, Carvalho Ana, Martinez Francisco, Caro-Llopis Alfonso, Gavin Maureen, Amble Karen, Krawitz Peter, Marmorstein Ronen, Herr-Israel Ellen

Abstract excerpt

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the...

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PMID: 37130971
DOI: 10.1038/s41431-023-01368-y
PMCID: PMC10325952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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