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Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/123925
Título

Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy

AutorRomá-Mateo, Carlos ; Aguado, Carmen; García-Giménez, José Luis; Knecht, Erwin; Sanz, Pascual ; Pallardó, Federico V.
Palabras claveFree radicals
Lafora disease
Laforin
Malin
Oxidative stress
Proteostasis
Fecha de publicación10-feb-2015
EditorHumana Press
CitaciónFree Radical Biology and Medicine 88(Pt A): 30-41 (2015)
ResumenLafora disease (LD; OMIM 254780, ORPHA501) is a devastating neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies and caused, in most cases, by mutations in either the EPM2A or the EPM2B gene, encoding respectively laforin, a phosphatase with dual specificity that is involved in the dephosphorylation of glycogen, and malin, an E3-ubiquitin ligase involved in the polyubiquitination of proteins related to glycogen metabolism. Thus, it has been reported that laforin and malin form a functional complex that acts as a key regulator of glycogen metabolism and that also plays a crucial role in protein homeostasis (proteostasis). Regarding this last function, it has been shown that cells are more sensitive to ER stress and show defects in proteasome and autophagy activities in the absence of a functional laforin-malin complex. More recently, we have demonstrated that oxidative stress accompanies these proteostasis defects and that various LD models show an increase in reactive oxygen species and oxidative stress products together with a dysregulated antioxidant enzyme expression and activity. In this review we discuss possible connections between the multiple defects in protein homeostasis present in LD and oxidative stress
Descripción12 páginas, 4 figuras, 1 tabla
URIhttp://hdl.handle.net/10261/123925
DOI10.1016/j.freeradbiomed.2015.01.034
ISSN0891-5849
E-ISSN1873-4596
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