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UnknownPathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Not available
S-EPMC11947181 | 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) 
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