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The glucose transporter type 1 (Glut1) syndromes
Epilepsy & Behavior, 2019The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia.
Henner, Koch, Yvonne G, Weber
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Harnessing GLUT1 Targeted Pro-oxidant Ascorbate for Synergistic Phototherapeutics.
Angewandte Chemie, 2022Despite extensive efforts to realize effective photodynamic therapy (PDT), there is still a lack of therapeutic approaches concisely-structured to mitigate major obstacles of PDT in clinical applications. Herein, we report a molecular strategy exploiting
Seyoung Koo +7 more
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GLUT1 deficiency syndrome – 2007 update
Developmental Medicine & Child Neurology, 2007GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaemia. CSF lactate is normal. Patients
Klepper, Jörg, Leiendecker, Bärbel
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GLUT1 biological function and inhibition: research advances.
Future Medicinal Chemistry, 2021The GLUT is a key regulator of glucose metabolism and is widely expressed on the surface of most cells of the body. GLUT provides a variety of nutrients for the growth, proliferation and differentiation of cells. In recent years, the development of drugs
Shuang Cao +4 more
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GLUT1 deficiency syndrome: An update
Revue Neurologique, 2014Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency.The phenotype is characterized by the variable association of mental retardation, acquired ...
D, Gras +7 more
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2016
Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene.
Joerg Klepper, Baerbel Leiendecker
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Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene.
Joerg Klepper, Baerbel Leiendecker
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Ultrastructure of Human Erythrocyte GLUT1
Biochemistry, 2006This study was undertaken to examine GLUT1 quaternary structure. Independent but complementary methodologies were used to investigate the influence of membrane-solubilizing detergents on GLUT1/lipid/detergent micelle hydrodynamic radii. Hydrodynamic size analysis and electron microscopy of GLUT1/lipid/detergent micelles and freeze-fracture electron ...
Graybill, Christopher A. +4 more
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Originalarbeit: Der Glukosetransporter (Glut1)-Defekt
Frühförderung interdisziplinär, 2022Der Glut1-Defekt ist eine genetisch bedingte Stoffwechselerkrankung, die erst in jüngster Zeit verstärkt in den Fokus der Forschung rückt. Goldstandard der Behandlung ist die Verabreichung einer speziellen ketogenen Diät mit variabler Wirkung auf unterschiedliche Symptombereiche der Erkrankung.
Jörg Klepper +5 more
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Neurology, 2012
The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and ...
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The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and ...
openaire +2 more sources