메뉴 건너뛰기




Volumn 127, Issue 18, 2006, Pages 709-714

Glucose transport hereditary diseases;Síndromes hereditarios del transporte de glucosa

Author keywords

Epilepsy; Fanconi Bickel syndrome; Glucose; Glucose galactose malabsorption; GLUT1 deficiency syndrome; Hypoglycorrhachia; Ketogenic diet

Indexed keywords

EXCITATORY AMINO ACID TRANSPORTER 3; GLUCOSE TRANSPORTER 1;

EID: 33845994709     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: 10.1157/13095099     Document Type: Review
Times cited : (6)

References (50)
  • 1
    • 0014378427 scopus 로고
    • The consumption of fuels during prolonged starvation
    • Cahill GJ Jr, Owen OE, Morgan AP. The consumption of fuels during prolonged starvation. Adv Enzyme Regul. 1968;6:143-50.
    • (1968) Adv Enzyme Regul , vol.6 , pp. 143-150
    • Cahill Jr, G.J.1    Owen, O.E.2    Morgan, A.P.3
  • 3
    • 0031635489 scopus 로고    scopus 로고
    • Human glucose transporters
    • Longo N, Elsas LJ. Human glucose transporters. Adv Pediatr. 1998; 45:293-313.
    • (1998) Adv Pediatr , vol.45 , pp. 293-313
    • Longo, N.1    Elsas, L.J.2
  • 4
    • 1242317693 scopus 로고    scopus 로고
    • The SLC2 family of facilitated hexose and polyol transporters
    • Uldry M, Thorens B. The SLC2 family of facilitated hexose and polyol transporters. Pflugers Arch. 2004;447:480-9.
    • (2004) Pflugers Arch , vol.447 , pp. 480-489
    • Uldry, M.1    Thorens, B.2
  • 5
    • 0037267005 scopus 로고    scopus 로고
    • Glucose transporters (GLUT and SGLT): Expanded families of sugar transport proteins
    • Wood IS, Trayhurn P. Glucose transporters (GLUT and SGLT): expanded families of sugar transport proteins. Br J Nutr. 2003;89:3-9.
    • (2003) Br J Nutr , vol.89 , pp. 3-9
    • Wood, I.S.1    Trayhurn, P.2
  • 6
    • 0023257914 scopus 로고
    • Expression of size-selected mRNA encoding the intestinal Na/glucose cotransporter in Xenopus laevis oocytes
    • Hediger MA, Ikeda T, Coady M, Gundersen CB, Wright EM. Expression of size-selected mRNA encoding the intestinal Na/glucose cotransporter in Xenopus laevis oocytes. Proc Natl Acad Sci USA. 1987;84:2634-7.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 2634-2637
    • Hediger, M.A.1    Ikeda, T.2    Coady, M.3    Gundersen, C.B.4    Wright, E.M.5
  • 7
    • 0032079451 scopus 로고    scopus 로고
    • A re-evaluation of GLUT 7
    • Burchell A. A re-evaluation of GLUT 7. Biochem J. 1998;331 (Pt 3):973.
    • (1998) Biochem J , vol.331 , Issue.PART 3 , pp. 973
    • Burchell, A.1
  • 8
    • 0031239202 scopus 로고    scopus 로고
    • Does astrocytic glycogen benefit axon function and survival in CNS white matter during glucose deprivation?
    • Ransom BR, Fern R. Does astrocytic glycogen benefit axon function and survival in CNS white matter during glucose deprivation? Glia. 1997;21: 134-41.
    • (1997) Glia , vol.21 , pp. 134-141
    • Ransom, B.R.1    Fern, R.2
  • 9
    • 85030516084 scopus 로고    scopus 로고
    • Glucose transporter type I deficiency syndrome
    • Rowland LP, editor, 11th ed. Philadelphia: Lippincott;
    • De Vivo DC, Pascual JM, Wang D. Glucose transporter type I deficiency syndrome. En: Rowland LP, editor. Merritt's neurology. 11th ed. Philadelphia: Lippincott; 2005. p. 644-6.
    • (2005) Merritt's neurology , pp. 644-646
    • De Vivo, D.C.1    Pascual, J.M.2    Wang, D.3
  • 11
    • 1642457265 scopus 로고    scopus 로고
    • Neuroenergetics: Calling upon astrocytes to satisfy hungry neurons
    • Pellerin L, Magistretti PJ. Neuroenergetics: calling upon astrocytes to satisfy hungry neurons. Neuroscientist. 2004;10:53-62.
    • (2004) Neuroscientist , vol.10 , pp. 53-62
    • Pellerin, L.1    Magistretti, P.J.2
  • 12
    • 85030511523 scopus 로고    scopus 로고
    • McKusick VA. Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. 12th ed. Baltimore: Johns Hopkins University Press; 1998. [Versión actualizada en Internet: Online Mendelian Inheritance in Man, OMIM™. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); 2000. Disponible en: www.ncbi.nlm.nih.gov/omim]
    • McKusick VA. Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. 12th ed. Baltimore: Johns Hopkins University Press; 1998. [Versión actualizada en Internet: Online Mendelian Inheritance in Man, OMIM™. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); 2000. Disponible en: www.ncbi.nlm.nih.gov/omim]
  • 13
    • 0004883672 scopus 로고
    • Chronic diarrhoea caused by monosaccharide malabsorption
    • Lindquist B, Meeuwisse G. Chronic diarrhoea caused by monosaccharide malabsorption. Acta Paediatr. 1962;51:674-85.
    • (1962) Acta Paediatr , vol.51 , pp. 674-685
    • Lindquist, B.1    Meeuwisse, G.2
  • 15
    • 0025891622 scopus 로고
    • Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter
    • Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature. 1991;350:354-6.
    • (1991) Nature , vol.350 , pp. 354-356
    • Turk, E.1    Zabel, B.2    Mundlos, S.3    Dyer, J.4    Wright, E.M.5
  • 16
    • 0036368517 scopus 로고    scopus 로고
    • Molecular basis for glucose-galactose malabsorption
    • Wright EM, Turk E, Martin MG. Molecular basis for glucose-galactose malabsorption. Cell Biochem Biophys. 2002;36:115-21.
    • (2002) Cell Biochem Biophys , vol.36 , pp. 115-121
    • Wright, E.M.1    Turk, E.2    Martin, M.G.3
  • 17
    • 77049297365 scopus 로고
    • Die chronische aminoacidurie (Aminosaeurediabetes oder nephrotisch-glukosurisscher Zwergwuchs) ber der Glykogenose und Cystinkrankheit
    • Fanconi G, Bickel H. Die chronische aminoacidurie (Aminosaeurediabetes oder nephrotisch-glukosurisscher Zwergwuchs) ber der Glykogenose und Cystinkrankheit. Helv Paediat Acta. 1949;4:359-96.
    • (1949) Helv Paediat Acta , vol.4 , pp. 359-396
    • Fanconi, G.1    Bickel, H.2
  • 18
    • 0031705401 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    • Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr. 1998;157:783-97.
    • (1998) Eur J Pediatr , vol.157 , pp. 783-797
    • Santer, R.1    Schneppenheim, R.2    Suter, D.3    Schaub, J.4    Steinmann, B.5
  • 19
    • 0036461262 scopus 로고    scopus 로고
    • The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
    • Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002;110:21-9.
    • (2002) Hum Genet , vol.110 , pp. 21-29
    • Santer, R.1    Groth, S.2    Kinner, M.3    Dombrowski, A.4    Berry, G.T.5    Brodehl, J.6
  • 20
    • 0036088069 scopus 로고    scopus 로고
    • Fanconi-Bickel syndrome - a congenital defect of facilitative glucose transport
    • Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome - a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2: 213-27.
    • (2002) Curr Mol Med , vol.2 , pp. 213-227
    • Santer, R.1    Steinmann, B.2    Schaub, J.3
  • 22
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703-9.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 24
    • 2942748931 scopus 로고    scopus 로고
    • Disorders of glucose transport
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ, editors, 3rd ed. Philadelphia: Butterworth-Heinemann;
    • De Vivo D, Wang D, Pascual JM. Disorders of glucose transport. En: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ, editors. The molecular and genetic basis of neurologic and psychiatric disease. 3rd ed. Philadelphia: Butterworth-Heinemann; 2003. p. 625-34.
    • (2003) The molecular and genetic basis of neurologic and psychiatric disease , pp. 625-634
    • De Vivo, D.1    Wang, D.2    Pascual, J.M.3
  • 27
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and eiectroencephalographic features in Glut-1 deficiency syndrome
    • Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Seizure characterization and eiectroencephalographic features in Glut-1 deficiency syndrome. Epilepsia. 2003;44:701-7.
    • (2003) Epilepsia , vol.44 , pp. 701-707
    • Leary, L.D.1    Wang, D.2    Nordli Jr, D.R.3    Engelstad, K.4    De Vivo, D.C.5
  • 29
    • 11144223212 scopus 로고    scopus 로고
    • Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects
    • Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57:111-8.
    • (2005) Ann Neurol , vol.57 , pp. 111-118
    • Wang, D.1    Pascual, J.M.2    Yang, H.3    Engelstad, K.4    Jhung, S.5    Sun, R.P.6
  • 31
    • 2942721274 scopus 로고    scopus 로고
    • Glucose transporters. Wiley Encyclopedia of Molecular
    • Ho Y-Y, Wang D, De Vivo D. Glucose transporters. Wiley Encyclopedia of Molecular Medicine. 2001;5:1441-6.
    • (2001) Medicine , vol.5 , pp. 1441-1446
    • Ho, Y.-Y.1    Wang, D.2    De Vivo, D.3
  • 32
    • 0022671955 scopus 로고
    • Maturational changes in cerebral function in infants determined by 18FDG positron emission tomography
    • Chugani HT, Phelps ME. Maturational changes in cerebral function in infants determined by 18FDG positron emission tomography. Science. 1986;231:840-3.
    • (1986) Science , vol.231 , pp. 840-843
    • Chugani, H.T.1    Phelps, M.E.2
  • 33
    • 0037163140 scopus 로고    scopus 로고
    • Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer
    • Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, et al. Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. J Biol Chem. 2002;277:30991-7.
    • (2002) J Biol Chem , vol.277 , pp. 30991-30997
    • Iserovich, P.1    Wang, D.2    Ma, L.3    Yang, H.4    Zuniga, F.A.5    Pascual, J.M.6
  • 34
    • 0031876240 scopus 로고    scopus 로고
    • Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome
    • Klepper J, Vera JC, De Vivo DC. Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome. Ann Neurol. 1998; 44:286-7.
    • (1998) Ann Neurol , vol.44 , pp. 286-287
    • Klepper, J.1    Vera, J.C.2    De Vivo, D.C.3
  • 36
    • 4143061717 scopus 로고    scopus 로고
    • Structural comparison of lactose permease and the glycerol-3-phosphate antiporter: Members of the major facilitator superfamily
    • Abramson J, Kaback HR, Iwata S. Structural comparison of lactose permease and the glycerol-3-phosphate antiporter: members of the major facilitator superfamily. Curr Opin Struct Biol. 2004;14:413-9.
    • (2004) Curr Opin Struct Biol , vol.14 , pp. 413-419
    • Abramson, J.1    Kaback, H.R.2    Iwata, S.3
  • 40
    • 0033850218 scopus 로고    scopus 로고
    • Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
    • Wang D, Kranz-Eble P, De Vivo DC. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat. 2000;16:224-31.
    • (2000) Hum Mutat , vol.16 , pp. 224-231
    • Wang, D.1    Kranz-Eble, P.2    De Vivo, D.C.3
  • 41
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G, Álvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet. 1998;18:188-91.
    • (1998) Nat Genet , vol.18 , pp. 188-191
    • Seidner, G.1    Álvarez, M.G.2    Yeh, J.I.3    O'Driscoll, K.R.4    Klepper, J.5    Stump, T.S.6
  • 42
    • 0002114142 scopus 로고
    • The effects of ketone bodies on glucose utilization
    • Passonneau JV, Hawkins RA, Lust RA, Welsh FA, editors, Baltimore: Williams & Wilkins;
    • De Vivo DC. The effects of ketone bodies on glucose utilization. En: Passonneau JV, Hawkins RA, Lust RA, Welsh FA, editors. Cerebral metabolism and neural function. Baltimore: Williams & Wilkins; 1980. p. 243-54.
    • (1980) Cerebral metabolism and neural function , pp. 243-254
    • De Vivo, D.C.1
  • 43
    • 0030809515 scopus 로고    scopus 로고
    • Lipoic acid reduces glycemia and increases muscle GLUT4 content in streptozotocin-diabetic rats
    • Khamaisi M, Potashnik R, Tirosh A, Demshchak E, Rudich A, Tritschler H, et al. Lipoic acid reduces glycemia and increases muscle GLUT4 content in streptozotocin-diabetic rats. Metabolism. 1997;46:763-8.
    • (1997) Metabolism , vol.46 , pp. 763-768
    • Khamaisi, M.1    Potashnik, R.2    Tirosh, A.3    Demshchak, E.4    Rudich, A.5    Tritschler, H.6
  • 44
    • 0344753437 scopus 로고    scopus 로고
    • Stimulation of GLUT-1 gene transcription by thioctic acid and its potential therapeutic value in Glut-1 deficiency syndrome (GLUT-1DS)
    • Kulikova-Schupak R, Ho YY, Kranz-Eble P, Yang H, Wang D, De Vivo DC. Stimulation of GLUT-1 gene transcription by thioctic acid and its potential therapeutic value in Glut-1 deficiency syndrome (GLUT-1DS). J Inherit Metab Dis. 2001;24:S106.
    • (2001) J Inherit Metab Dis , vol.24
    • Kulikova-Schupak, R.1    Ho, Y.Y.2    Kranz-Eble, P.3    Yang, H.4    Wang, D.5    De Vivo, D.C.6
  • 45
    • 0032748870 scopus 로고    scopus 로고
    • GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro
    • Klepper J, Fischbarg J, Vera JC, Wang D, De Vivo DC. GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr Res. 1999;46:677-83.
    • (1999) Pediatr Res , vol.46 , pp. 677-683
    • Klepper, J.1    Fischbarg, J.2    Vera, J.C.3    Wang, D.4    De Vivo, D.C.5
  • 46
    • 0034925884 scopus 로고    scopus 로고
    • Glucose transporter type 1 deficiency syndrome (Glut1DS): Methylxanthines potentiate GLUT1 haploinsufficiency in vitro
    • Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res. 2001;50:254-60.
    • (2001) Pediatr Res , vol.50 , pp. 254-260
    • Ho, Y.Y.1    Yang, H.2    Klepper, J.3    Fischbarg, J.4    Wang, D.5    De Vivo, D.C.6
  • 47
    • 0032456164 scopus 로고    scopus 로고
    • Role of SNARE'S in the GLUT4 translocation response to insulin in adipose cells and muscle
    • St-Denis JF, Cushman SW. Role of SNARE'S in the GLUT4 translocation response to insulin in adipose cells and muscle. J Basic Clin Physiol Pharmacol. 1998;9:153-65.
    • (1998) J Basic Clin Physiol Pharmacol , vol.9 , pp. 153-165
    • St-Denis, J.F.1    Cushman, S.W.2
  • 48
    • 0029935810 scopus 로고    scopus 로고
    • Trafficking, targeting and translocation of the insulin-responsive glucose transporter, GLUT4, in adipocytes
    • Rice JE, Livingstone C, Gould GW. Trafficking, targeting and translocation of the insulin-responsive glucose transporter, GLUT4, in adipocytes. Biochem Soc Trans. 1996;24:540-6.
    • (1996) Biochem Soc Trans , vol.24 , pp. 540-546
    • Rice, J.E.1    Livingstone, C.2    Gould, G.W.3
  • 49
    • 0028339799 scopus 로고
    • A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity
    • Mueckler M, Kruse M, Strube M, Riggs AC, Chiu KC, Permutt MA. A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity. J Biol Chem. 1994;269:17765-7.
    • (1994) J Biol Chem , vol.269 , pp. 17765-17767
    • Mueckler, M.1    Kruse, M.2    Strube, M.3    Riggs, A.C.4    Chiu, K.C.5    Permutt, M.A.6
  • 50
    • 0035864965 scopus 로고    scopus 로고
    • Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: A candidate gene for NIDDM susceptibility
    • McVie-Wylie AJ, Lamson DR, Chen YT. Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility. Genomics. 2201;72:113-7.
    • Genomics , vol.2201 , Issue.72 , pp. 113-117
    • McVie-Wylie, A.J.1    Lamson, D.R.2    Chen, Y.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.