Caveolin‐3 loss linked with the P104L LGMD‐1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis

• Principais autores: Dinesh S. Shah (Autor), Raid B. Nisr (Autor), Gabriela Krasteva‐Christ (Autor), Harinder S. Hundal (Autor)
• Formato: Livro
• Publicado em: Wiley, 2023-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Caveolins are the principal structural components of plasma membrane caveolae. Dominant pathogenic mutations in the muscle‐specific caveolin‐3 (Cav3) gene isoform, such as the limb girdle muscular dystrophy type 1C (LGMD‐1C) P104L mutation, result in dramatic loss of the Cav3 pro...