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

• Main Authors: Nina McTiernan (Author), Svein Isungset Støve (Author), Ingvild Aukrust (Author), Marita Torrisen Mårli (Author), Line M. Myklebust (Author), Gunnar Houge (Author), Thomas Arnesen (Author)
• 格式: 图书
• 出版: BMC, 2018-03-01T00:00:00Z.
• 主题: article
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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...