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2013 9
2014 16
2015 21
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2017 16
2018 16
2019 16
2020 0
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Crystal structure of the human glucose transporter GLUT1.
Deng D, Xu C, Sun P, Wu J, Yan C, Hu M, Yan N. Deng D, et al. Nature. 2014 Jun 5;510(7503):121-5. doi: 10.1038/nature13306. Epub 2014 May 18. Nature. 2014. PMID: 24847886
The glucose transporter GLUT1 catalyses facilitative diffusion of glucose into erythrocytes and is responsible for glucose supply to the brain and other organs. Dysfunctional mutations may lead to GLUT1 deficiency syndrome, …
The glucose transporter GLUT1 catalyses facilitative diffusion of glucose into erythrocytes and is responsible f …
The glucose transporter type 1 (Glut1) syndromes.
Koch H, Weber YG. Koch H, et al. Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31. Epilepsy Behav. 2019. PMID: 30076047 Review.
The 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 …
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood …
Therapeutic strategies for glucose transporter 1 deficiency syndrome.
Tang M, Park SH, De Vivo DC, Monani UR. Tang M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1923-1932. doi: 10.1002/acn3.50881. Epub 2019 Aug 28. Ann Clin Transl Neurol. 2019. PMID: 31464092 Free PMC article. Review.
Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of glucose and triggers the infantile-onset neurodevelopmental di …
Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemm …
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
Tang M, Gao G, Rueda CB, Yu H, Thibodeaux DN, Awano T, Engelstad KM, Sanchez-Quintero MJ, Yang H, Li F, Li H, Su Q, Shetler KE, Jones L, Seo R, McConathy J, Hillman EM, Noebels JL, De Vivo DC, Monani UR. Tang M, et al. Nat Commun. 2017 Jan 20;8:14152. doi: 10.1038/ncomms14152. Nat Commun. 2017. PMID: 28106060 Free PMC article.
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 …
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) …
Atypical Manifestations in Glut1 Deficiency Syndrome.
De Giorgis V, Varesio C, Baldassari C, Piazza E, Olivotto S, Macasaet J, Balottin U, Veggiotti P. De Giorgis V, et al. J Child Neurol. 2016 Aug;31(9):1174-80. doi: 10.1177/0883073816650033. Epub 2016 Jun 1. J Child Neurol. 2016. PMID: 27250207
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. ...Glucose transporter type 1 …
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic …
Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-Month Prospective Study in a Cohort of Italian Children and Adults with GLUT1-Deficiency Syndrome and Drug Resistant Epilepsy.
De Amicis R, Leone A, Lessa C, Foppiani A, Ravella S, Ravasenghi S, Trentani C, Ferraris C, Veggiotti P, De Giorgis V, Tagliabue A, Battezzati A, Bertoli S. De Amicis R, et al. Nutrients. 2019 Jul 25;11(8):1716. doi: 10.3390/nu11081716. Nutrients. 2019. PMID: 31349661 Free PMC article. Clinical Trial.
This study evaluated the effects of a 12-month cKD on ghrelin and leptin concentrations in children, adolescents and adults affected by the GLUT1-Deficiency Syndrome or drug resistant epilepsy (DRE). ...However, a slight height z-score reduction (from -0.603 …
This study evaluated the effects of a 12-month cKD on ghrelin and leptin concentrations in children, adolescents and adults affected by the …
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B. Liu J, et al. Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5. Mol Brain. 2018. PMID: 30185235 Free PMC article.
Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. Novel deleterious variants were also found in West syndrome, Doose syndrome and glucose transporter type 1 deficiency …
Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. Novel deleterious variant …
Glucose Transporters at the Blood-Brain Barrier: Function, Regulation and Gateways for Drug Delivery.
Patching SG. Patching SG. Mol Neurobiol. 2017 Mar;54(2):1046-1077. doi: 10.1007/s12035-015-9672-6. Epub 2016 Jan 22. Mol Neurobiol. 2017. PMID: 26801191 Review.
It then considers the effects on glucose transporter expression and distribution of hypoglycemia and hyperglycemia associated with diabetes and oxygen/glucose deprivation associated with cerebral ischemia. ...Mutations in glucose transporters, notably …
It then considers the effects on glucose transporter expression and distribution of hypoglycemia and hyperglycemia associated …
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M. Meyer K, et al. Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6. Cell. 2018. PMID: 30197081 Free article.
Follow-up experiments on GLUT1 (SLC2A1), the glucose transporter causative of GLUT1 deficiency syndrome, revealed that the mutated protein mislocalizes to intracellular compartments. Mutant GLUT1 interacts with adaptor prote …
Follow-up experiments on GLUT1 (SLC2A1), the glucose transporter causative of GLUT1 deficiency syndrom …
GLUT1 deficiency syndrome: an update.
Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F. Gras D, et al. Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20. Rev Neurol (Paris). 2014. PMID: 24269118 Review.
INTRODUCTION: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. ...CONCLUSION: Glucose transporter …
INTRODUCTION: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de …
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