De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity...

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Veröffentlicht in:	American Journal Of Human Genetics 2019-01, Vol.104 (1), p.139-156
Hauptverfasser:	Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A, Bongers, Ernie M.H.F, Schieving, Jolanda H, Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D, Terhal, Paulien A, van Gassen, Koen L, Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R, Macnamara, Ellen, Braakman, Hilde M.H, Brimble, Elise, Ruznikov, Maura R.Z, Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A, Gordon, Christopher T, Janssens, Veerle, Vissers, Lisenka E.L.M
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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