Sustained oral spermidine supplementation rescues functional and structural defects in COL6-deficient myopathic mice

Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1−/− mouse model of collagen VI‐related myopathies

“…In the last two decades, much effort was spent on the elucidation of the pathogenic mechanisms underlying ColVI-related myopathies, also by taking advantage of the ColVI null (Col6a1 −/− ) mouse model, 1 in order to identify druggable targets for prospective therapies. [2][3][4] The results obtained within this work provide a proofof-concept for the repurposing of the Food and Drug Administration (FDA)-approved salbutamol in the context of ColVI-related myopathies, as they demonstrate…”

“…In the last two decades, much effort was spent on the elucidation of the pathogenic mechanisms underlying ColVI‐related myopathies, also by taking advantage of the ColVI null ( Col6a1 −/− ) mouse model, 1 in order to identify druggable targets for prospective therapies. 2 , 3 , 4 …”

“…Collagen VI (ColVI)‐related myopathies are a distinct group of progressive muscle disorders, which include Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), for which no therapy is yet available. In the last two decades, much effort was spent on the elucidation of the pathogenic mechanisms underlying ColVI‐related myopathies, also by taking advantage of the ColVI null ( Col6a1 −/− ) mouse model, 1 in order to identify druggable targets for prospective therapies 2–4 …”