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

• Main Authors: Rasmus Ree (Author), Anni Sofie Geithus (Author), Pernille Mathiesen Tørring (Author), Kristina Pilekær Sørensen (Author), Mads Damkjær (Author), DDD study (Author), Sally Ann Lynch (Author), Thomas Arnesen (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...