Article
1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Oct 2012
De Luna Noemi, Díaz-Manera Jordi, Paradas Carmen, Iturriaga Cristina, Rojas-García Ricardo, Araque Josefa, Genebriera Mireia, Gich Ignasi, Illa Isabel, Gallardo Eduard
Abstract excerpt
Dysferlinopathies are a heterogenous group of autosomal recessive inherited muscular dystrophies caused by mutations in DYSF gene. Dysferlin is expressed mainly in skeletal muscle and in monocytes and patients display a severe reduction or absence of protein in both tissues. Vitamin D3 promotes differentiation of the promyelocytic leukemia HL60 cells. We analyzed the effect of vitamin D3 on dysferlin expression...
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