Article
Laminin-α2 chain deficiency in skeletal muscle causes dysregulation of multiple cellular mechanisms.
Life science alliance - 1 Dec 2024
Martins Susana G, Ribeiro Vanessa, Melo Catarina, Paulino-Cavaco Cláudia, Antonini Dario, Dayalan Naidu Sharadha, Murtinheira Fernanda, Fonseca Inês, Saget Bérénice, Pita Mafalda, Fernandes Diogo R, Gameiro Dos Santos Pedro, Rodrigues Gabriela, Zilhão Rita, Herrera Federico, Dinkova-Kostova Albena T, Carlos Ana Rita, Thorsteinsdóttir Sólveig
Abstract excerpt
LAMA2, coding for the laminin-α2 chain, is a crucial ECM component, particularly abundant in skeletal muscle. Mutations in LAMA2 trigger the often-lethal LAMA2-congenital muscular dystrophy (LAMA2-CMD). Various phenotypes have been linked to LAMA2-CMD; nevertheless, the precise mechanisms that malfunction during disease onset in utero remain unknown. We generated Lama2-deficient C2C12 cells and found that...
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