Article
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
American journal of human genetics - 3 May 2018
Cheng Hanyin, Dharmadhikari Avinash V, Varland Sylvia, Ma Ning, Domingo Deepti, Kleyner Robert, Rope Alan F, Yoon Margaret, Stray-Pedersen Asbjørg, Posey Jennifer E, Crews Sarah R, Eldomery Mohammad K, Akdemir Zeynep Coban, Lewis Andrea M, Sutton Vernon R, Rosenfeld Jill A, Conboy Erin, Agre Katherine, Xia Fan, Walkiewicz Magdalena, Longoni Mauro, High Frances A, van Slegtenhorst Marjon A, Mancini Grazia M S, Finnila Candice R, van Haeringen Arie, den Hollander Nicolette, Ruivenkamp Claudia, Naidu Sakkubai, Mahida Sonal, Palmer Elizabeth E, Murray Lucinda, Lim Derek, Jayakar Parul, Parker Michael J, Giusto Stefania, Stracuzzi Emanuela, Romano Corrado, Beighley Jennifer S, Bernier Raphael A, Küry Sébastien, Nizon Mathilde, Corbett Mark A, Shaw Marie, Gardner Alison, Barnett Christopher, Armstrong Ruth, Kassahn Karin S, Van Dijck Anke, Vandeweyer Geert, Kleefstra Tjitske, Schieving Jolanda, Jongmans Marjolijn J, de Vries Bert B A, Pfundt Rolph, Kerr Bronwyn, Rojas Samantha K, Boycott Kym M, Person Richard, Willaert Rebecca, Eichler Evan E, Kooy R Frank, Yang Yaping, Wu Joseph C, Lupski James R, Arnesen Thomas, Cooper Gregory M, Chung Wendy K, Gecz Jozef, Stessman Holly A F, Meng Linyan, Lyon Gholson J
Abstract excerpt
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex,...
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