Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.

Abstract excerpt

Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy. Dysferlin is a membrane protein comprised of seven, beta-sheet enriched, C2 domains and is involved in Ca(2+)dependent sarcolemmal repair after minute wounding. On the protein level, point mutations in DYSF lead to misfolding, aggregation within the endoplasmic reticulum, and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amyloidogenic Proteins
• Share to Dysferlin
• Share to Fluorescent Dyes