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TranscriptomicsPathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
The pathogenic PPP2R5D E198K and E420K variant alters the transcriptome of patient iPSC-derived cortical neurons
ORGANISM(S): Homo sapiens 
2025-05-19 | GSE266958 | GEO
GenomicsPathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
Pathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
PRJNA1108776 | ENA
UnknownEarly-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Not available
S-EPMC9052555 | biostudies-literature
UnknownCharacterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.
Not available
S-EPMC11056288 | biostudies-literature
GenomicsA de novo Missense Mutation in PPP2R5D Alters Dopamine Pathways and Morphology of iPSC-derived Midbrain Neurons
A de novo Missense Mutation in PPP2R5D Alters Dopamine Pathways and Morphology of iPSC-derived Midbrain Neurons
PRJNA998382 | ENA
UnknownThe phosphatase activity of the PPP2R5D-PP2A holoenzyme modulates liprin-α1 liquid-liquid phase separation.
Not available
S-EPMC12273559 | biostudies-literature
UnknownQuantitative proteomics and phosphoproteomics of PPP2R5D variants reveal deregulation of RPS6 phosphorylation through converging signaling cascades.
Not available
S-EPMC10081281 | biostudies-literature
UnknownA disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
Not available
S-EPMC7952134 | biostudies-literature
ProteomicsThe phosphatase activity of the PPP2R5D-PP2A holoenzyme modulates liquid-liquid phase separation of the scaffold protein liprin-α1
Liprin-α1 is a widely expressed scaffolding protein that regulates cellular processes such as cell motility and synaptic transmission through assembly of localized higher-order molecular complexes. The dynamic regulation of these complexes remains poorly understood. Liquid-liquid phase separation (L...
ORGANISM(S): Homo sapiens (Human) 
2025-06-23 | PXD063716 | Pride
Protein phosphatase 2a (pp2a)  fluorescence recovery after photobleaching (frap)  mass spectrometry (ms)  phosphorylation  liprin-α1  liprin-β1  intrinsically disordered protein domain  phase separation  houge-janssens syndrome (hjs) 
UnknownQuantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades.
Not available
S-EPMC10485637 | biostudies-literature
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