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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 …
Glucose transporters in brain in health and disease.
Koepsell H. Koepsell H. Pflugers Arch. 2020 Sep;472(9):1299-1343. doi: 10.1007/s00424-020-02441-x. Epub 2020 Aug 13. Pflugers Arch. 2020. PMID: 32789766 Free PMC article. Review.
In addition, diseases are described in which functional changes of cerebral glucose transporters are relevant. These are GLUT1 deficiency syndrome (GLUT1-SD), diabetes mellitus, Alzheimer's disease (AD), stroke, and traumatic brain injury (TBI). …
In addition, diseases are described in which functional changes of cerebral glucose transporters are relevant. These are GLUT1 …
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.
Variants in ion channel genes accounted for the greatest functional gene category (55.8%), with SCN1A coming first (16/43). 81.25% (13/16) of SCN1A mutations were de novo and 68.8% (11/16) were novel in Dravet syndrome. Pathogenic or likely pathogenic variants were found i …
Variants in ion channel genes accounted for the greatest functional gene category (55.8%), with SCN1A coming first (16/43). 81.25% (13/16) o …
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.
Glucose transporters (GLUTs) at the blood-brain barrier maintain the continuous high glucose and energy demands of the brain. ...Mutations in glucose transporters, notably those identified in GLUT1 deficiency syndrome, and some recreation …
Glucose transporters (GLUTs) at the blood-brain barrier maintain the continuous high glucose and energy demands of the brain. …
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Bourque DK, Cordeiro D, Nimmo GAM, Kobayashi J, Mercimek-Andrews S. Bourque DK, et al. Can J Neurol Sci. 2021 Nov;48(6):826-830. doi: 10.1017/cjn.2021.3. Epub 2021 Jan 12. Can J Neurol Sci. 2021. PMID: 33431108
BACKGROUND: Glucose Transporter-1 (GLUT1) Deficiency Syndrome (GLUT1DS) is caused by defective transport of glucose across the blood-brain barrier into brain cells resulting in hypoglycorrhachia due to the heterozygous pathogenic v …
BACKGROUND: Glucose Transporter-1 (GLUT1) Deficiency Syndrome (GLUT1DS) is caused by defective tra …
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Schwantje M, et al. J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13. J Inherit Metab Dis. 2020. PMID: 31605543 Free PMC article. Review.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterised by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the brain. ...Effects on movement disorders were notic …
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterised by deficient glucose …
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) …
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.
Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose. Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein ste …
Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose …
Lactate and its many faces.
Taher M, Leen WG, Wevers RA, Willemsen MA. Taher M, et al. Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Eur J Paediatr Neurol. 2016. PMID: 26481417 Review.
METHODS: A review of the literature was performed, focusing on glucose and lactate in relation to cerebral energy metabolism, in the context of four typical clinical situations, namely (transient states of) low glucose availability for the brain due to hypoglycemia, …
METHODS: A review of the literature was performed, focusing on glucose and lactate in relation to cerebral energy metabolism, in the …
Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors.
Hoshino H, Takayama K, Ishii A, Takahashi Y, Kanemura H. Hoshino H, et al. Brain Dev. 2020 Oct;42(9):686-690. doi: 10.1016/j.braindev.2020.05.010. Epub 2020 Jun 24. Brain Dev. 2020. PMID: 32591173
BACKGROUND: The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. ...He developed tremor and ataxia. Cerebrospinal fluid (CSF) revealed fasting- …
BACKGROUND: The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has …
87 results