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Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.1172/jci97103
Abstract: Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identical mutations in the…
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Keywords:
tia1 variant;
tia1 n357s;
multisystem proteinopathy;
sqstm1 ... See more keywords