טוען...

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

Dysferlin is a large transmembrane protein that plays a key role in cell membrane repair and underlies a recessive form of inherited muscular dystrophy. Dysferlinopathy is characterized by absence or marked reduction of dysferlin protein with 43% of reported pathogenic variants being missense varian...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Biol Chem
Main Authors: Woolger, Natalie, Bournazos, Adam, Sophocleous, Reece A., Evesson, Frances J., Lek, Angela, Driemer, Birgit, Sutton, R. Bryan, Cooper, Sandra T.
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Biochemistry and Molecular Biology 2017
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC5682967/
https://ncbi.nlm.nih.gov/pubmed/28904177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.790014
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