Associated Papers
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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
Alhajaj G et al.
American Journal of Medical Genetics. Part A, 2023
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
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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