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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Bibliographic Details
Published in:	American journal of human genetics Vol. 104; no. 1; pp. 139 - 156
Main Authors:	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, Ruzhnikov, 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:	Journal Article
Language:	English
Published:	United States Elsevier Inc 03-01-2019 Elsevier
Subjects:	Adolescent Child Child, Preschool de novo mutation DNA Mutational Analysis epilepsy Female Haploinsufficiency - genetics HEK293 Cells Humans intellectual disability Intellectual Disability - genetics Male Mutation PP2A PP2A-related neurodevelopmental disorders PPP2CA Protein Binding - genetics Protein Phosphatase 2 - genetics Protein Subunits - chemistry Protein Subunits - metabolism Syndrome PPP2CA epilepsy de novo mutation syndrome PP2A-related neurodevelopmental disorders PP2A intellectual disability
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