Project: Modulation of skeletal muscle integrity in healthy and pathological contexts

About

The functioning of the muscle fiber (myofiber) is supported by precise positioning of its organelles and nuclei. The contractile force of myofibrils is controlled by the triad “excitation-contraction coupling” (ECC) system, the locus of interconnection between the sarcoplasmic reticulum, a network of tubular endoplasmic reticulum (ER), and the transverse tubules (T-tubules), formed by repeated radial invaginations of the plasma membrane. Centronuclear myopathies (CNM) are hereditary neuromuscular disorders whose major characteristic is an abnormal location of the nuclei in the center of the myofibers. We seek to identify pathways governed by the SH3KBP1 protein and participating in the control of the ER, RS, T-tubules and ECC, in vitro and in vivo.