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dehydroascorbic acid/atassia
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3 risultati
ATM and GLUT1-S490 phosphorylation regulate GLUT1 mediated transport in skeletal muscle.
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OBJECTIVE
The glucose and dehydroascorbic acid (DHA) transporter GLUT1 contains a phosphorylation site, S490, for ataxia telangiectasia mutated (ATM). The objective of this study was to determine whether ATM and GLUT1-S490 regulate GLUT1.
METHODS
L6 myoblasts and mouse skeletal muscles were used to
Role of GLUT1 in regulation of reactive oxygen species.
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In skeletal muscle cells, GLUT1 is responsible for a large portion of basal uptake of glucose and dehydroascorbic acid, both of which play roles in antioxidant defense. We hypothesized that conditions that would decrease GLUT1-mediated transport would cause increased reactive oxygen species (ROS)
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
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Glut-1 deficiency syndrome was first described in 1991 as a sporadic clinical condition, later shown to be the result of haploinsufficiency. We now report a family with Glut-1 deficiency syndrome affecting 5 members over 3 generations. The syndrome behaves as an autosomal dominant condition.
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