287 related articles for article (PubMed ID: 32474749)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
Furuse T; Mizuma H; Hirose Y; Kushida T; Yamada I; Miura I; Masuya H; Funato H; Yanagisawa M; Onoe H; Wakana S
Dis Model Mech; 2019 Sep; 12(9):. PubMed ID: 31399478
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. PKCs Sweeten Cell Metabolism by Phosphorylation of Glut1.
Siska PJ; Rathmell JC
Mol Cell; 2015 Jun; 58(5):711-2. PubMed ID: 26046643
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.
Akman CI; Provenzano F; Wang D; Engelstad K; Hinton V; Yu J; Tikofsky R; Ichese M; De Vivo DC
Epilepsy Res; 2015 Feb; 110():206-15. PubMed ID: 25616474
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Willemsen MA; Vissers LE; Verbeek MM; van Bon BW; Geuer S; Gilissen C; Klepper J; Kwint MP; Leen WG; Pennings M; Wevers RA; Veltman JA; Kamsteeg EJ
Eur J Hum Genet; 2017 Jun; 25(6):771-774. PubMed ID: 28378819
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C.
Montel-Hagen A; Kinet S; Manel N; Mongellaz C; Prohaska R; Battini JL; Delaunay J; Sitbon M; Taylor N
Cell; 2008 Mar; 132(6):1039-48. PubMed ID: 18358815
[TBL] [Abstract][Full Text] [Related]
20. Glucose transporters in brain in health and disease.
Koepsell H
Pflugers Arch; 2020 Sep; 472(9):1299-1343. PubMed ID: 32789766
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]