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Volumn 270, Issue 22, 2003, Pages 4469-4477

Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family

Author keywords

Mutations; Rogers syndrome; Thiamine; Transporter

Indexed keywords

ASPARTIC ACID; CARRIER PROTEIN; HISTIDINE; METHOTREXATE; MUTANT PROTEIN; THIAMINE; THIAMINE TRANSPORTER 1; UNCLASSIFIED DRUG;

EID: 0344011668     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2003.03839.x     Document Type: Article
Times cited : (6)

References (28)
  • 1
    • 0014493303 scopus 로고
    • Thiamine-responsive megaloblastic anemia
    • Rogers, L., Porter, R. & Sidbury, J.J. (1967) Thiamine-responsive megaloblastic anemia. J. Pediat. 74, 494-504.
    • (1967) J. Pediat. , vol.74 , pp. 494-504
    • Rogers, L.1    Porter, R.2    Sidbury, J.J.3
  • 2
    • 0021633852 scopus 로고
    • Thiamine-dependent beriberi in the thiamine-responsive anemia syndrome
    • Mandel, H., Berant, M., Hazani, A. & Naveh, Y. (1984) Thiamine-dependent beriberi in the thiamine-responsive anemia syndrome. N. Engl. J. Med. 311, 836-838.
    • (1984) N. Engl. J. Med. , vol.311 , pp. 836-838
    • Mandel, H.1    Berant, M.2    Hazani, A.3    Naveh, Y.4
  • 3
    • 0024422762 scopus 로고
    • Effect of loss of first-phase insulin secretion on hepatic glucose production and tissue glucose disposal in humans
    • Luzi, L. & DeFronzo, R.A. (1989) Effect of loss of first-phase insulin secretion on hepatic glucose production and tissue glucose disposal in humans. Am. J Physiol. 257, E241-E246.
    • (1989) Am. J Physiol. , vol.257
    • Luzi, L.1    DeFronzo, R.A.2
  • 5
    • 0028556544 scopus 로고
    • Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia
    • Rindi, G., Patrini, C., Laforenza, U., Mandel, H., Berant, M., Viana, M.B., Poggi, V. & Zarra, A.N. (1994) Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. J. Inherit. Metab. Dis. 17, 667-677.
    • (1994) J. Inherit. Metab. Dis. , vol.17 , pp. 667-677
    • Rindi, G.1    Patrini, C.2    Laforenza, U.3    Mandel, H.4    Berant, M.5    Viana, M.B.6    Poggi, V.7    Zarra, A.N.8
  • 6
    • 0033105776 scopus 로고    scopus 로고
    • Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
    • Stagg, A.R., Fleming, J.C., Baker, M.A., Sakamoto, M., Cohen, N. & Neufeld, E.J. (1999) Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J. Clin. Invest. 103, 723-729.
    • (1999) J. Clin. Invest. , vol.103 , pp. 723-729
    • Stagg, A.R.1    Fleming, J.C.2    Baker, M.A.3    Sakamoto, M.4    Cohen, N.5    Neufeld, E.J.6
  • 8
    • 0032810357 scopus 로고    scopus 로고
    • Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23
    • Banikazemi, M., Diaz, G.A., Vossough, P., Jalali, M., Desnick, R.J. & Gelb, B.D. (1999) Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol. Genet. Metab. 66, 193-198.
    • (1999) Mol. Genet. Metab. , vol.66 , pp. 193-198
    • Banikazemi, M.1    Diaz, G.A.2    Vossough, P.3    Jalali, M.4    Desnick, R.J.5    Gelb, B.D.6
  • 9
    • 0033064140 scopus 로고    scopus 로고
    • The gene mutated in thiamine-responsive anemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
    • Fleming, J., Tartaglini, E., Steinkamp, M., Schorderet, D., Cohen, N. & Neufeld, E.J. (1999) The gene mutated in thiamine-responsive anemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat. Genet. 22, 305-308.
    • (1999) Nat. Genet. , vol.22 , pp. 305-308
    • Fleming, J.1    Tartaglini, E.2    Steinkamp, M.3    Schorderet, D.4    Cohen, N.5    Neufeld, E.J.6
  • 10
    • 0034520569 scopus 로고    scopus 로고
    • Identification and characterization of the human and mouse SLC19A3 gene: A novel member of the reduced folate family of micronutrient transporter genes
    • Eudy, J.D., Spiegelstein, O., Barber, R.C., Wlodarczyk, B.J., Talbot, J. & Finnell, R. H. (2000) Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. Mol. Genet. Metab. 71, 581-590.
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 581-590
    • Eudy, J.D.1    Spiegelstein, O.2    Barber, R.C.3    Wlodarczyk, B.J.4    Talbot, J.5    Finnell, R.H.6
  • 12
    • 0036705807 scopus 로고    scopus 로고
    • Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family
    • Baron, D., Assaraf, Y.G., Cohen, N. & Aronheim, A. (2002) Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol. Med. 8, 462-474.
    • (2002) Mol. Med. , vol.8 , pp. 462-474
    • Baron, D.1    Assaraf, Y.G.2    Cohen, N.3    Aronheim, A.4
  • 13
    • 0032532415 scopus 로고    scopus 로고
    • Effects of the loss of capacity for N-glycosylation on the transport activity and cellular localization of the human reduced folate carrier
    • Wong, S.C., Zhang, L., Proefke, S.A. & Matherly, L.H. (1998) Effects of the loss of capacity for N-glycosylation on the transport activity and cellular localization of the human reduced folate carrier. Biochim. Biophys. Acta 1375, 6-12.
    • (1998) Biochim. Biophys. Acta , vol.1375 , pp. 6-12
    • Wong, S.C.1    Zhang, L.2    Proefke, S.A.3    Matherly, L.H.4
  • 15
    • 0036081813 scopus 로고    scopus 로고
    • Functional role of specific amino acid residues in human thiamine transporter SLC19A2: Mutational analysis
    • Balamurugan, K. & Said, H.M. (2002) Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis. Am. J. Physiol. Gastrointest. Liver Physiol. 283, G37-G43.
    • (2002) Am. J. Physiol. Gastrointest. Liver Physiol. , vol.283
    • Balamurugan, K.1    Said, H.M.2
  • 16
    • 0035448301 scopus 로고    scopus 로고
    • Functional interactions between arginine-133 and aspartate-88 in the human reduced folate carrier: Evidence for a charge-pair association
    • Liu, X.Y. & Matherly, L.H. (2001) Functional interactions between arginine-133 and aspartate-88 in the human reduced folate carrier: evidence for a charge-pair association. Biochem. J. 358, 511-516.
    • (2001) Biochem. J. , vol.358 , pp. 511-516
    • Liu, X.Y.1    Matherly, L.H.2
  • 17
    • 0027423418 scopus 로고
    • Identification of an oncoprotein- and UV-responsive protein kinase that binds and potentiates the c-Jun activation domain
    • Hibi, M., Lin, A., Smeal, T., Minden, A. & Karin, M. (1993) Identification of an oncoprotein-and UV-responsive protein kinase that binds and potentiates the c-Jun activation domain. Genes Dev. 7, 2135-2148.
    • (1993) Genes Dev. , vol.7 , pp. 2135-2148
    • Hibi, M.1    Lin, A.2    Smeal, T.3    Minden, A.4    Karin, M.5
  • 18
    • 0034098780 scopus 로고    scopus 로고
    • Rapid determination of membrane transport parameters in adherent cells
    • Sharif, K.A. & Goldman, I.D. (2000) Rapid determination of membrane transport parameters in adherent cells. Biotechniques 28, 926-928,930,932.
    • (2000) Biotechniques , vol.28 , pp. 926-928
    • Sharif, K.A.1    Goldman, I.D.2
  • 19
    • 0038322025 scopus 로고    scopus 로고
    • Alterations in the expression of transcription factors and the reduced folate carrier as a novel mechanism of antifolate resistance in human leukemia cells
    • Rothem, L., Aronheim, A. & Assaraf, Y.G. (2003) Alterations in the expression of transcription factors and the reduced folate carrier as a novel mechanism of antifolate resistance in human leukemia cells. J. Biol. Chem. 278, 8935-8941.
    • (2003) J. Biol. Chem. , vol.278 , pp. 8935-8941
    • Rothem, L.1    Aronheim, A.2    Assaraf, Y.G.3
  • 20
    • 0344898569 scopus 로고    scopus 로고
    • Functional expression of tagged human Na+-glucose cotransporter in Xenopus laevis oocytes
    • Bissonnette, P., Noel, J., Coady, M.J. & Lapointe, J.Y. (1999) Functional expression of tagged human Na+-glucose cotransporter in Xenopus laevis oocytes. J. Physiol. 520, 359-371.
    • (1999) J. Physiol. , vol.520 , pp. 359-371
    • Bissonnette, P.1    Noel, J.2    Coady, M.J.3    Lapointe, J.Y.4
  • 21
    • 0034724340 scopus 로고    scopus 로고
    • Oligomerization of serotonin transporter and its functional consequences
    • Kilic, F. & Rudnick. G. (2000) Oligomerization of serotonin transporter and its functional consequences. Proc. Natl Acad. Sci. USA 97, 3106-3111.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 3106-3111
    • Kilic, F.1    Rudnick, G.2
  • 22
    • 0037423188 scopus 로고    scopus 로고
    • Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms
    • Subramanian, V.S., Marchant, J.S., Parker, I. & Said, H.M. (2003) Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms. J. Biol. Chem. 278, 3976-3984.
    • (2003) J. Biol. Chem. , vol.278 , pp. 3976-3984
    • Subramanian, V.S.1    Marchant, J.S.2    Parker, I.3    Said, H.M.4
  • 23
    • 0033523092 scopus 로고    scopus 로고
    • Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion
    • Ferguson, P.L. & Flintoff, W.F. (1999) Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion. J. Biol. Chem. 274, 16269-16278.
    • (1999) J. Biol. Chem. , vol.274 , pp. 16269-16278
    • Ferguson, P.L.1    Flintoff, W.F.2
  • 24
    • 0035881213 scopus 로고    scopus 로고
    • Introduction of a (poly) histidine tag in 1-lactate dehydrogenase produces a mixture of active and inactive molecules
    • Halliwell, C., Morgan, G., Ou, C.-P. & Cass, A. (2001) Introduction of a (poly) histidine tag in 1-lactate dehydrogenase produces a mixture of active and inactive molecules. Anal Biochem. 295, 257-261.
    • (2001) Anal Biochem. , vol.295 , pp. 257-261
    • Halliwell, C.1    Morgan, G.2    Ou, C.-P.3    Cass, A.4
  • 25
    • 0029557384 scopus 로고
    • Reverse transcriptase enzyme from type 1 human immunodeficiency virus using different baculoviral vector systems
    • Pekrun, K., Petry, H., Jentsch, K., Hunsmann, G. & Luke, W. (1995) Reverse transcriptase enzyme from type 1 human immunodeficiency virus using different baculoviral vector systems. Eur. J. Biochem. 234, 811-818.
    • (1995) Eur. J. Biochem. , vol.234 , pp. 811-818
    • Pekrun, K.1    Petry, H.2    Jentsch, K.3    Hunsmann, G.4    Luke, W.5
  • 26
    • 0035007293 scopus 로고    scopus 로고
    • Post-translational modification of the N-terminal His tag interfers with the crystallization of the wild-type and mutant SH3 domains from chicken src tyrosine kinase
    • Kim, K., Yi, E., Baker, D. & Zhang, Y. (2001) Post-translational modification of the N-terminal His tag interfers with the crystallization of the wild-type and mutant SH3 domains from chicken src tyrosine kinase. Acta Crystallogr. D57, 759-762.
    • (2001) Acta Crystallogr. , vol.D57 , pp. 759-762
    • Kim, K.1    Yi, E.2    Baker, D.3    Zhang, Y.4
  • 27
    • 0034613382 scopus 로고    scopus 로고
    • Clustering of mutations in the first transmembrane domain of the human reduced folate carrier in GW1843U89-resistant leukemia cells with impaired antifolate transport and augmented folate uptake
    • Drori, S., Jansen, G., Mauritz, R., Peters, G.J. & Assaraf, Y.G. (2000) Clustering of mutations in the first transmembrane domain of the human reduced folate carrier in GW1843U89-resistant leukemia cells with impaired antifolate transport and augmented folate uptake. J. Biol. Chem. 275, 30855-30863.
    • (2000) J. Biol. Chem. , vol.275 , pp. 30855-30863
    • Drori, S.1    Jansen, G.2    Mauritz, R.3    Peters, G.J.4    Assaraf, Y.G.5
  • 28
    • 0036844903 scopus 로고    scopus 로고
    • Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell lines
    • Rothem, L., Ifergan, I., Kaufman, Y., Priest, D., Jansen, G. & Assaraf, Y.G. (2002) Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell lines. Biochem. J. 367, 741-750.
    • (2002) Biochem. J. , vol.367 , pp. 741-750
    • Rothem, L.1    Ifergan, I.2    Kaufman, Y.3    Priest, D.4    Jansen, G.5    Assaraf, Y.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.