The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Purpose Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA , and more rarely in PPP2R1A . Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often...

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Veröffentlicht in:	Genetics in medicine 2021-02, Vol.23 (2), p.352-362
Hauptverfasser:	Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
Format:	Artikel
Sprache:	eng
Schlagworte:	Binding sites Biochemistry, Molecular Biology Biomedical and Life Sciences Biomedicine Cloning Epilepsy Ethics Genetics Human Genetics Humans Intellectual disabilities Intellectual Disability - genetics Kinases Laboratory Medicine Life Sciences Medical research Microcephaly Muscle Hypotonia Neurodevelopmental disorders Neurodevelopmental Disorders - epidemiology Neurodevelopmental Disorders - genetics Phosphatase Protein Phosphatase 2 - genetics Proteins Transcription Factors
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