Results 291 to 300 of about 47,601 (323)
Some of the next articles are maybe not open access.
Neurology, 2010
Glucose transporter-1 (GLUT1) deficiency (OMIM 606777) is an autosomal dominant disorder that results in abnormal transport of glucose into the brain.1 The initial description of GLUT1 deficiency syndrome included intractable epilepsy occurring early in life, developmental delay, and acquired microcephaly, with hypoglycorrhachia (low CSF glucose) in ...
Katherine Nickels, Elaine Wirrell
openaire +1 more source
Glucose transporter-1 (GLUT1) deficiency (OMIM 606777) is an autosomal dominant disorder that results in abnormal transport of glucose into the brain.1 The initial description of GLUT1 deficiency syndrome included intractable epilepsy occurring early in life, developmental delay, and acquired microcephaly, with hypoglycorrhachia (low CSF glucose) in ...
Katherine Nickels, Elaine Wirrell
openaire +1 more source
Role for GLUT1 in diabetic glomerulosclerosis
Expert Reviews in Molecular Medicine, 2006Numerous studies have investigated specific pathways that link diabetes and high extracellular glucose exposure to glomerulosclerosis and mesangial cell extracellular matrix production. However, only in the past ten years has a role for glucose transporters in this process been addressed.
Charles W, Heilig +2 more
openaire +2 more sources
Atypical Manifestations in Glut1 Deficiency Syndrome
Journal of Child Neurology, 2016Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition.
V. De Giorgis +7 more
openaire +4 more sources
Journal of Cellular Physiology, 2019
Aerobic glycolysis (the Warburg effect) is a robust metabolic hallmark of most tumors, including oral squamous cell carcinoma (OSCC). Glucose transporter 1 (GLUT1), a major glucose transporter regulating the glucose uptake, is upregulated in OSCC and ...
Xing Chen +6 more
semanticscholar +1 more source
Aerobic glycolysis (the Warburg effect) is a robust metabolic hallmark of most tumors, including oral squamous cell carcinoma (OSCC). Glucose transporter 1 (GLUT1), a major glucose transporter regulating the glucose uptake, is upregulated in OSCC and ...
Xing Chen +6 more
semanticscholar +1 more source
Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
European Journal of Pediatrics, 2003Facilitative type-1 glucose transporter (GLUT1) deficiency syndrome is caused by a defect of glucose transport into brain, resulting in an epileptic encephalopathy. Seizures respond effectively to a ketogenic diet, but a subgroup of patients require add-on anticonvulsant therapy or do not tolerate the diet.
Klepper, Jörg +3 more
openaire +3 more sources
Glut1 Deficiency Syndrome and Novel Ketogenic Diets
Journal of Child Neurology, 2013The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for disorders of brain energy metabolism, such as Glut1 deficiency syndrome. Novel ketogenic diets such as the modified Atkins diet and the low glycemic index treatment have significantly improved the therapeutic options for ...
Klepper, Jörg, Leiendecker, Baerbel
openaire +2 more sources
2015
The majority of patients with glucose transporter type I deficiency (G1D) are haploinsufficient in SLC2A1, the gene that encodes the glucose transporter isoforms present both in the endothelial cells of the blood–brain barrier and in astrocytes. G1D is expected, on biochemical principles, to result in decreased blood to brain and intracerebral glucose ...
openaire +1 more source
The majority of patients with glucose transporter type I deficiency (G1D) are haploinsufficient in SLC2A1, the gene that encodes the glucose transporter isoforms present both in the endothelial cells of the blood–brain barrier and in astrocytes. G1D is expected, on biochemical principles, to result in decreased blood to brain and intracerebral glucose ...
openaire +1 more source
GLUT1 deficiency syndrome in clinical practice
Epilepsy Research, 2012GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity.
openaire +2 more sources
Autosomal Recessive Inheritance of GLUT1 Deficiency Syndrome
Neuropediatrics, 2009GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission. We report on a six-year-old girl from an inbred Arab family with moderate global developmental delay, epilepsy, ataxia, hypotonia, and hypoglycorrhachia (CSF glucose 36 mg/dL; CSF ...
Klepper, J. +5 more
openaire +2 more sources