Vincent Jacquemond

This study uses a zebrafish model of Bethlem myopathy to show that collagen VI deficiency disrupts CaV1.1 function, leading to increased sarcoplasmic reticulum Ca2+ leak and muscle dysfunction.

This study identifies PCYT2 as critical for muscle health and aging, showing its deficiency causes muscle weakness and aging, and demonstrates therapeutic potential through AAV-based delivery.

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.