Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.
Garg D et al.
Movement Disorders Clinical Practice, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 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
39201832 (PubMed )
Supplement: children-11-00897-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Early-onset levodopa responsive parkinsonism in PPP2R5D mutation.
Mahale R et al.
Parkinsonism & Related Disorders, 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
37572851 (PubMed )
Supplement: mmc1.docx
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
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
37034727 (PubMed )
Supplement: media-4.pdf
Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population.
Ning P et al.
Neuroscience Letters, 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
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Walker IM et al.
Annals of Neurology, 2021
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Kim CY et al.
Annals of Neurology, 2021
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