Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

N‐terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N‐terminal acetylation complex NatA have been associated with diverse, syndromic X‐linked recessive disorders,...

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Pubblicato in:Hum Mutat
Autori principali: Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2016
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5084832/
https://ncbi.nlm.nih.gov/pubmed/27094817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23001
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