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Article

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

Human molecular genetics - 1 Apr 2015

Myklebust Line M, Van Damme Petra, Støve Svein I, Dörfel Max J, Abboud Angèle, Kalvik Thomas V, Grauffel Cedric, Jonckheere Veronique, Wu Yiyang, Swensen Jeffrey, Kaasa Hanna, Liszczak Glen, Marmorstein Ronen, Reuter Nathalie, Lyon Gholson J, Gevaert Kris, Arnesen Thomas

Abstract excerpt

The X-linked lethal Ogden syndrome was the first reported human genetic disorder associated with a mutation in an N-terminal acetyltransferase (NAT) gene. The affected males harbor an Ser37Pro (S37P) mutation in the gene encoding Naa10, the catalytic subunit of NatA, the major human NAT involved...

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Identifiers

PMID: 25489052
DOI: 10.1093/hmg/ddu611
PMCID: PMC4355026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25489052-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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