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Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

Archive ouverte | Rossiaud, Lucille | CCSD

International audience. Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The deficiency of this e...

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Archive ouverte | Bruge, Celine | CCSD

International audience. Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although the link between LGMD and its gene...

Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination

Archive ouverte | Hoch, Lucile | CCSD

International audience. Limb-girdle muscular dystrophy type R3 (LGMD R3) is a rare genetic disorder characterized by a progressive proximal muscle weakness and caused by mutations in the SGCA gene encoding alpha-sar...

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