Articles with "tia1 variant" as a keyword



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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

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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… read more here.

Keywords: tia1 variant; tia1 n357s; multisystem proteinopathy; sqstm1 ... See more keywords