Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.
Muir AM et al.
Hgg Advances, 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
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
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
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
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Reduction of protein phosphatase 2A (PP2A) complexity reveals cellular functions and dephosphorylation motifs of the PP2A/B'δ holoenzyme.
Jong CJ et al.
The Journal of Biological Chemistry, 2020
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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