Blar i Bergen Open Research Archive på emneord "NAA10"
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Characterization of NAA10 mutations in patients exhibiting phenotypes associated with N-terminal acetylation deficiency
(Master thesis, 2018-12-19)Approximately 80% of the proteins found in human cells are acetylated on their N-terminus, either partially or completely, by a group of enzymes called N-terminal acetyltransferases (NATs)^1. To date, seven NATs, NatA-NatF^2–7 ... -
Functional characterization of N-terminal acetyltransferase 10 (NAA10) variants potentially causing disease
(Master thesis, 2019-12-14)Approximately 80-90 % of all eukaryotic proteins are co- or post-translationally acetylated on their N-terminus by a group of enzymes called N-terminal acetyltransferases (NATs) (Arnesen et al., 2009). To date, eight NATs ... -
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
(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, ...