Browsing Bergen Open Research Archive by Author "Lynch, Sally Ann"

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NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

Casey, Jillian P.; Støve, Svein Isungset; McGorrian, Catherine; Galvin, Joseph; Blenski, Marina; Dunne, Aimee; Ennis, Sean; Brett, Francesca; King, Mary D.; Arnesen, Thomas; Lynch, Sally Ann (Peer reviewed; Journal article, 2015-11-02)

We report two brothers from a non-consanguineous Irish family presenting with a novel syndrome characterised by intellectual disability, facial dysmorphism, scoliosis and long QT. Their mother has a milder phenotype including ...
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, ...