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

• Päätekijät: Nina McTiernan (Tekijä), Svein Isungset Støve (Tekijä), Ingvild Aukrust (Tekijä), Marita Torrisen Mårli (Tekijä), Line M. Myklebust (Tekijä), Gunnar Houge (Tekijä), Thomas Arnesen (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2018-03-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract Background The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form an...