LMNA R482L mutation causes impairments in C2C12 myoblasts subpopulations, alterations in metabolic reprogramming during differentiation, and oxidative stress.

Abstract excerpt

LMNA mutations causing classical familial partial lipodystrophy of Dunnigan type (FPLD2) usually affect residue R482. FPLD is a severe metabolic disorder that often leads to cardiovascular and skeletal muscle complications. How LMNA mutations affect the functional properties of skeletal muscles is still not well understood. In the present project, we investigated the LMNA-R482L mutation-specific alterations in a...

Topics

• Animals
• Oxidative Stress
• Lamin Type A
• Mice
• Myoblasts
• Cell Differentiation