Articles with "s85c mutation" as a keyword



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The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy

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Published in 2018 at "Experimental Neurology"

DOI: 10.1016/j.expneurol.2018.05.012

Abstract: ABSTRACT Matrin‐3‐related distal myopathy is characterized mainly by progressive distal weakness of the lower extremities. The mutation p.S85C in matrin‐3 (MATR3) has been identified as disease‐causing alteration, whereas the specific molecular mechanisms leading to the… read more here.

Keywords: granule; stress granule; granule formation; stress ... See more keywords