Blar i Department of Biomedicine på forfatter "Damkjær, Mads"
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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
Ree, Rasmus Moen; Geithus, Anni Sofie; Tørring, Pernille Mathiesen; Sørensen, Kristina Pilekær; Damkjær, Mads; Lynch, Sally Ann; Arnesen, Thomas (Peer reviewed; Journal article, 2019-06-07)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, ...