Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons (original) (raw)

“…In addition to MDs, there are many other diseases affecting the muscular system that have been modeled by means of iPSCs, such as carnitine palmitoyltransferase II deficiency [ 103 ], valosin containing protein disease [ 104 , 105 ], Pompe disease [ 106 , 107 , 108 , 109 , 121 ] and other multisystem disorders [ 122 ]. Overall, patient-derived iPSCs are useful tools for modeling skeletal muscle diseases.…”