Article

Pathological mutation in SMN impairs modulation of GAR1 phase separation linking condensate dysfunction to Spinal Muscular Atrophy

2025-01-31

Abstract excerpt

<h4>Summary</h4> Pathological mutations in liquid-liquid phase separation (LLPS) scaffold proteins have been linked to biomolecular condensate dysfunction in neurodegenerative diseases, while the possible impact of client protein mutations remains unclear. In spinal muscular atrophy (SMA), the disease-associated E134K mutation in the Tudor domain (TD) of the survival motor neuron (SMN) protein disrupts its intera...

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Literature Corpus work: 10714041-32e6-5721-8042-996f1fd31689
DOI: 10.1101/2025.01.30.635772

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