Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

PURPOSE: N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. In five individ...

Descripción completa

Detalles Bibliográficos
Autores principales: Morrison, Jennifer, Altuwaijri, Norah K., Brønstad, Kirsten, Aksnes, Henriette, Alsaif, Hessa S., Evans, Anthony, Hashem, Mais, Wheeler, Patricia G., Webb, Bryn D., Alkuraya, Fowzan S., Arnesen, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553619/
https://www.ncbi.nlm.nih.gov/pubmed/34230638
http://dx.doi.org/10.1038/s41436-021-01264-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553619/
https://www.ncbi.nlm.nih.gov/pubmed/34230638
http://dx.doi.org/10.1038/s41436-021-01264-0

Ejemplares similares