Maria Constanza Maldifassi

Impaired Regulated Exocytosis and GLUT4 Trafficking in Dysferlin-Deficient Human Myoblasts: A Pilot Study

Background/Objectives: Dysferlinopathies are inherited muscular dystrophies caused by DYSF mutations that lead to progressive muscle degeneration. Proteomic analyses of patient muscle reveal altered abundance of proteins involved in regulated exocytosis and energy metabolism, ref...