The hypertrophic cardiomyopathy-associated A331P actin variant enhances basal contractile activity and elicits resting muscle dysfunction.

• Tác giả: Anthony Cammarato, Kripa Chitre, John F Dawson, Evan Despond, Matthew H Doran, Axel J Fenwick, William Lehman, Aditi Madan, Michael J Rynkiewicz, Duncan Sousa, Meera C Viswanathan
• Ngôn ngữ: eng
• Ký hiệu phân loại: 636.0885 Animal husbandry
• Thông tin xuất bản: United States : iScience , 2025
• Bộ sưu tập: NCBI
• ID: 239669

Tóm tắt

Previous studies aimed at defining the mechanistic basis of hypertrophic cardiomyopathy caused by A331P cardiac actin have reported conflicting results. The mutation is located along an actin surface strand, proximal to residues that interact with tropomyosin. These F-actin-tropomyosin associations are vital for proper contractile inhibition. To help resolve disease pathogenesis, we implemented a multidisciplinary approach. Transgenic