3 Result(s)
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Matilde Cescon
Molecular Medicine
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Article
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
Autophagy is often believed to be elevated in disease, contributing to pathogenesis. Paolo Bonaldo and his colleagues now show that it is actually too little autophagy that occurs in some forms of muscular dys...
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Article
Role of adiponectin in the metabolism of skeletal muscles in collagen VI–related myopathies
The role of adiponectin has been particularly deepened in diabetic muscles while the study of adiponectin in hereditary myopathies has been marginally investigated. Here, we report the study about adiponectin ...
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Article
Open AccessGBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice
Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal storage Gaucher disease (GD) and are among the most frequent genetic risk factors for Parkinson’s disease (PD). So far, studies on both neu...
