Articles with "r120g mutant" as a keyword



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Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity.

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Published in 2017 at "Biochemical and biophysical research communications"

DOI: 10.1016/j.bbrc.2017.05.002

Abstract: αB-crystallin (αBC) is a small heat shock protein. Mutations in the αBC gene are linked to α-crystallinopathy, a hereditary myopathy histologically characterized by intracellular accumulation of protein aggregates. The disease-causing R120G αBC mutant, harboring an… read more here.

Keywords: cln6; anti aggregate; r120g mutant; aggregate activity ... See more keywords