Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies
Arístides López‐Márquez, Carmen Badosa, Lluis Enjuanes-Ruiz, Patricia Hernández‐Carabias, Manuel Sánchez‐Martín, Bruno Cadot, Zoheir Guesmia, Ioannis Georvasilis, Sol Balsells, Marcos Blanco-Ramos, Emma Puighermanal, Albert Quintana, Mónica Roldán, Valérie Allamand, Cecilia Jimenez-Mallebrera
The paper generates and characterizes the first mouse model with a dominant-negative glycine substitution in collagen VI alpha chains, showing key disease features for therapeutic research.
Disease Models & Mechanisms · Nov 25, 2025Peer-reviewedNeuroscience