Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Human mutation - 1 Aug 2016
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
Abstract excerpt
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, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual...
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