Articles with "lmna r482l" as a keyword



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

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Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-88219-6

Abstract: 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… read more here.

Keywords: r482l mutation; mutation causes; oxidative stress; lmna r482l ... See more keywords