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

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 germlin...

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Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Ree, Rasmus, Geithus, Anni Sofie, Tørring, Pernille Mathiesen, Sørensen, Kristina Pilekær, Damkjær, Mads, Lynch, Sally Ann, Arnesen, Thomas
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554967/
https://ncbi.nlm.nih.gov/pubmed/31174490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0803-1
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