| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8259242 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2016 | 25 Pages |
Abstract
In atrophic and regenerating fibers of patients with NLSD-M we observed TFEB over-expression; in other conditions autophagy markers are increased, suggesting lipophagy active role on human lipid metabolism.
Keywords
LC3ATP-ase4′,6-diamidin-2-phenylindoleOCTN2TFEBNADH-trHSLMADDETFCOXPPARαMCTCPTSDHGAPDHDAPIAtglelectromyographyEMGNeutral lipid storage disease with myopathyMedium chain triglycerideLSMsuccinate dehydrogenasecytochrome oxidaseFoxOelectron transfer flavoproteinadipose triglyceride lipasehormone-sensitive lipaseLipid storage myopathyPASCreatine kinasecarnitine deficiencyMultiple acyl-CoA dehydrogenase deficiencyglyceraldehyde 3-phosphate dehydrogenase
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Authors
Corrado Angelini, Anna Chiara Nascimbeni, Giovanna Cenacchi, Elisabetta Tasca,