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2. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. Lee EE; Ma J; Sacharidou A; Mi W; Salato VK; Nguyen N; Jiang Y; Pascual JM; North PE; Shaul PW; Mettlen M; Wang RC Mol Cell; 2015 Jun; 58(5):845-53. PubMed ID: 25982116 [TBL] [Abstract][Full Text] [Related]
3. Erythroid glucose transport in health and disease. Guizouarn H; Allegrini B Pflugers Arch; 2020 Sep; 472(9):1371-1383. PubMed ID: 32474749 [TBL] [Abstract][Full Text] [Related]
4. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome. Klepper J Neuropediatrics; 2013 Aug; 44(4):235-6. PubMed ID: 23483445 [TBL] [Abstract][Full Text] [Related]
5. GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases? Klepper J Dev Med Child Neurol; 2015 Oct; 57(10):896-7. PubMed ID: 25997718 [No Abstract] [Full Text] [Related]
6. Jeavons syndrome in a family with GLUT1-deficiency syndrome. Madaan P; Jauhari P; Chakrabarty B; Gulati S Seizure; 2019 Oct; 71():158-160. PubMed ID: 31352161 [No Abstract] [Full Text] [Related]
7. GLUT1 deficiency and other glucose transporter diseases. Pascual JM; Wang D; Lecumberri B; Yang H; Mao X; Yang R; De Vivo DC Eur J Endocrinol; 2004 May; 150(5):627-33. PubMed ID: 15132717 [TBL] [Abstract][Full Text] [Related]
8. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms]. Larsen J; Stubbings V; Møller RS; Hjalgrim H Ugeskr Laeger; 2013 Dec; 175(50A):V04130248. PubMed ID: 25353328 [TBL] [Abstract][Full Text] [Related]
9. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome. Takahashi S; Matsufuji M; Yonee C; Tsuru H; Sano N; Oguni H Clin Genet; 2017 Jun; 91(6):932-933. PubMed ID: 28124377 [TBL] [Abstract][Full Text] [Related]
10. Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations. Di Vito L; Licchetta L; Pippucci T; Baldassari S; Stipa C; Mostacci B; Alvisi L; Tinuper P; Bisulli F Epilepsy Behav; 2018 Feb; 79():169-173. PubMed ID: 29306089 [No Abstract] [Full Text] [Related]
12. Towards a more palatable treatment for Glut1 deficiency syndrome. Brockmann K Dev Med Child Neurol; 2011 Jul; 53(7):580-1. PubMed ID: 21585366 [No Abstract] [Full Text] [Related]
13. 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 Nat Commun; 2017 Jan; 8():14152. PubMed ID: 28106060 [TBL] [Abstract][Full Text] [Related]
14. Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome. Raja M; Kinne RKH J Membr Biol; 2020 Apr; 253(2):87-99. PubMed ID: 32025761 [TBL] [Abstract][Full Text] [Related]
15. Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations. Dozières-Puyravel B; Zaman S; Petrou S; François L; Vuillaumier-Barrot S; Mochel F; Gras D; Auvin S Brain Dev; 2019 Oct; 41(9):808-811. PubMed ID: 31196579 [TBL] [Abstract][Full Text] [Related]
16. Therapeutic strategies for glucose transporter 1 deficiency syndrome. Tang M; Park SH; De Vivo DC; Monani UR Ann Clin Transl Neurol; 2019 Sep; 6(9):1923-1932. PubMed ID: 31464092 [TBL] [Abstract][Full Text] [Related]
17. Crystal structure of the human glucose transporter GLUT1. Deng D; Xu C; Sun P; Wu J; Yan C; Hu M; Yan N Nature; 2014 Jun; 510(7503):121-5. PubMed ID: 24847886 [TBL] [Abstract][Full Text] [Related]
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20. An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice. Tang M; Park SH; Petri S; Yu H; Rueda CB; Abel ED; Kim CY; Hillman EM; Li F; Lee Y; Ding L; Jagadish S; Frankel WN; De Vivo DC; Monani UR JCI Insight; 2021 Feb; 6(3):. PubMed ID: 33351789 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]