A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

• Hlavní autoři: Rasmus Ree (Autor), Anni Sofie Geithus (Autor), Pernille Mathiesen Tørring (Autor), Kristina Pilekær Sørensen (Autor), Mads Damkjær (Autor), DDD study (Autor), Sally Ann Lynch (Autor), Thomas Arnesen (Autor)
• Médium: Kniha
• Vydáno: BMC, 2019-06-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Abstract Background N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10...