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Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen, Iris; Vaneynde, Pieter; Reynhout, Sara; Lenaerts, Lisa; Derua, Rita; Houge, Gunnar; Janssens, Veerle.
Affiliation
  • Verbinnen I; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven) - Gasthuisberg O&N1, Herestraat 49, PO-box 901, B-3000 Leuven, Belgium.
  • Vaneynde P; KU Leuven Brain Institute (LBI), B-3000 Leuven, Belgium.
  • Reynhout S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven) - Gasthuisberg O&N1, Herestraat 49, PO-box 901, B-3000 Leuven, Belgium.
  • Lenaerts L; KU Leuven Brain Institute (LBI), B-3000 Leuven, Belgium.
  • Derua R; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven) - Gasthuisberg O&N1, Herestraat 49, PO-box 901, B-3000 Leuven, Belgium.
  • Houge G; KU Leuven Brain Institute (LBI), B-3000 Leuven, Belgium.
  • Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven) - Gasthuisberg O&N1, Herestraat 49, PO-box 901, B-3000 Leuven, Belgium.
Biochem Soc Trans ; 49(4): 1567-1588, 2021 08 27.
Article in En | MEDLINE | ID: mdl-34241636
By removing Ser/Thr-specific phosphorylations in a multitude of protein substrates in diverse tissues, Protein Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development. Here, we review current knowledge on PP2A gene mutations causally involved in neurodevelopmental disorders and intellectual disability, focusing on PPP2CA, PPP2R1A and PPP2R5D. We provide insights into the impact of these mutations on PP2A structure, substrate specificity and potential function in neurobiology and brain development.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Protein Phosphatase 2 / Neurodevelopmental Disorders / Isoenzymes / Intellectual Disability / Mutation Limits: Animals / Humans Language: En Journal: Biochem Soc Trans Year: 2021 Type: Article Affiliation country: Belgium
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Protein Phosphatase 2 / Neurodevelopmental Disorders / Isoenzymes / Intellectual Disability / Mutation Limits: Animals / Humans Language: En Journal: Biochem Soc Trans Year: 2021 Type: Article Affiliation country: Belgium