Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at least 21 different NAA10 missense variants have been reported as pathogenic in humans. The clinical features associated...

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Detalles Bibliográficos
Autores principales: McTiernan, Nina, Tranebjærg, Lisbeth, Bjørheim, Anna S., Hogue, Jacob S., Wilson, William G., Schmidt, Berkley, Boerrigter, Melissa M., Nybo, Maja L., Smeland, Marie F., Tümer, Zeynep, Arnesen, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304055/
https://www.ncbi.nlm.nih.gov/pubmed/35039925
http://dx.doi.org/10.1007/s00439-021-02427-4

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