Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
Quantum-based modeling implies that bidentate Arg89-substrate binding enhances serine/threonine protein phosphatase-2A(PPP2R5D/PPP2R1A/PPP2CA)-mediated dephosphorylation.
Salter EA et al.
Frontiers in Cell and Developmental Biology, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.
Verbinnen I et al.
Frontiers in Cell and Developmental Biology, 2022
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen I et al.
Biochemical Society Transactions, 2021
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
34228795 (PubMed )
Supplement: supplement_1.pdf
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S et al.
American Journal of Human Genetics, 2019
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