Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy
Alastair Khodabukus,
Neel K. Prabhu,
Taylor Roberts
et al.
Abstract:Dysferlin is a multi‐functional protein that regulates membrane resealing, calcium homeostasis, and lipid metabolism in skeletal muscle. Genetic loss of dysferlin results in limb girdle muscular dystrophy 2B/2R (LGMD2B/2R) and other dysferlinopathies – rare untreatable muscle diseases that lead to permanent loss of ambulation in humans. The mild disease severity in dysferlin‐deficient mice and diverse genotype‐phenotype relationships in LGMD2B patients have prompted the development of new in vitro models for p… Show more
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