Mitochondrial dysfunction and consequences in calpain-3-deficient muscle
Abstract
Nonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A). While calpain-3 is implicated in muscle cell differentiation, sarcomere formation, and muscle cytoskeletal remodeling, the physiological basis for LGMD2A has remained elusive.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Dec 01, 2020
- Source ID
- 10.1186/s13395-020-00254-1
Entities
People
- Aditi Phadke
- Aurelia Defour
- Helen K. Johnston
- Jack H. Van Der Meulen
- Jennifer M. Peterson
- Jessica Boehler
- Jyoti K. Jaiswal
- Kanneboyina Nagaraju
- Kitipong Uaesoontrachoon
- Qing Yu
- Vanessa E. Jahnke
Organizations
- Foundation for the National Institutes of Health
- Muscular Dystrophy Association
- United States Department of Defense