Associated Papers
The clinical missense variant E282K in PPP3CA/calcineurin shifts substrate dephosphorylation by altering active site recruitment.
Shirakawa KT et al.
Nature Communications, 2026
Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review.
Huang Y et al.
Translational Pediatrics, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.
Young RE et al.
Hgg Advances, 2025
The phosphatase activity of the PPP2R5D-PP2A holoenzyme modulates liprin-α1 liquid-liquid phase separation.
Mayer A et al.
The Journal of Biological Chemistry, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I et al.
American Journal of Human Genetics, 2025
A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons.
Carter JL et al.
Stem Cells (dayton, Ohio), 2025
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder.
Sudnawa KK et al.
Clinical Genetics, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Autism spectrum disorder and various mechanisms behind it.
Rajabi P et al.
Pharmacology, Biochemistry, and Behavior, 2024
Unmasking Protein Phosphatase 2A Regulatory Subunit B as a Crucial Factor in the Progression of Dilated Cardiomyopathy.
Lin F et al.
Biomedicines, 2024
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
The role of liprin-α1 phosphorylation in its liquid-liquid phase separation: regulation by PPP2R5D/PP2A holoenzyme.
Mayer A et al.
Biorxiv : the Preprint Server for Biology, 2024
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
Kanner CH et al.
Orphanet Journal of Rare Diseases, 2024
B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations.
Wu CG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades.
Smolen KA et al.
The Journal of Biological Chemistry, 2023
Disease mutations and phosphorylation alter the allosteric pathways involved in autoinhibition of protein phosphatase 2A.
Konovalov KA et al.
The Journal of Chemical Physics, 2023
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Oyama N et al.
Journal of Medical Genetics, 2023
Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56δ holoenzyme.
Wu CG et al.
Biorxiv : the Preprint Server for Biology, 2023
Quantitative proteomics and phosphoproteomics of PPP2R5D variants reveal deregulation of RPS6 phosphorylation through converging signaling cascades.
Ka S et al.
Biorxiv : the Preprint Server for Biology, 2023
Inducible protein degradation as a strategy to identify Phosphoprotein Phosphatase 6 substrates in RAS-mutant colorectal cancer cells.
Mariano NC et al.
Biorxiv : the Preprint Server for Biology, 2023
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Testa B et al.
Genes, 2023
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies.
Murtaza N et al.
Cell Reports, 2022
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P 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
A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.
Yan L et al.
Biomed Research International, 2021
PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.
Biswas D et al.
International Journal of Molecular Sciences, 2020
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Shang L et al.
Neurogenetics, 2016
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
Papke CM et al.
The Journal of Biological Chemistry, 0