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Volumn 30, Issue 4, 2014, Pages 485-488

Analysis of thiamine transporter genes in sporadic beriberi

Author keywords

Beriberi; Mutations; SLC19 A2; SLC19 A3; SLC25 A19; Thiamine

Indexed keywords

THIAMINE;

EID: 84895454048     PISSN: 08999007     EISSN: 18731244     Source Type: Journal    
DOI: 10.1016/j.nut.2013.10.008     Document Type: Article
Times cited : (5)

References (31)
  • 1
    • 70349565391 scopus 로고    scopus 로고
    • From stargazing chicks to seizing infants: Thiamine deficiency redux
    • Patterson M.C. From stargazing chicks to seizing infants: Thiamine deficiency redux. Neurology 2009, 73:824-825.
    • (2009) Neurology , vol.73 , pp. 824-825
    • Patterson, M.C.1
  • 2
    • 0035353080 scopus 로고    scopus 로고
    • Molecular mechanisms of thiamine utilization
    • Singleton C.K., Martin P.R. Molecular mechanisms of thiamine utilization. Curr Mol Med 2001, 1:197-207.
    • (2001) Curr Mol Med , vol.1 , pp. 197-207
    • Singleton, C.K.1    Martin, P.R.2
  • 3
    • 0031829533 scopus 로고    scopus 로고
    • Mechanisms of neuronal cell death in Wernicke's encephalopathy
    • Hazell A.S., Todd K.G., Butterworth R.F. Mechanisms of neuronal cell death in Wernicke's encephalopathy. Metab Brain Dis 1998, 13:97-122.
    • (1998) Metab Brain Dis , vol.13 , pp. 97-122
    • Hazell, A.S.1    Todd, K.G.2    Butterworth, R.F.3
  • 4
    • 0036176566 scopus 로고    scopus 로고
    • Interactions of oxidative stress with thiamine homeostasis promote neurodegeneration
    • Gibson G.E., Zhang H. Interactions of oxidative stress with thiamine homeostasis promote neurodegeneration. Neurochem 2002, 40:493-504.
    • (2002) Neurochem , vol.40 , pp. 493-504
    • Gibson, G.E.1    Zhang, H.2
  • 6
    • 61449097610 scopus 로고    scopus 로고
    • Molecular genetics of alcohol-related brain damage
    • Guerrini I., Thomson A.D., Gurling H.M. Molecular genetics of alcohol-related brain damage. Alcohol Alcohol 2009, 44:166-170.
    • (2009) Alcohol Alcohol , vol.44 , pp. 166-170
    • Guerrini, I.1    Thomson, A.D.2    Gurling, H.M.3
  • 8
    • 0033832914 scopus 로고    scopus 로고
    • A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19 A2 in a patient with deficiency of respiratory chain complex I
    • Scharfe C., Hauschild M., Klopstock T., Janssen A.J., Heidemann P.H., Meitinger T., et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19 A2 in a patient with deficiency of respiratory chain complex I. J Med Genet 2000, 37:669-673.
    • (2000) J Med Genet , vol.37 , pp. 669-673
    • Scharfe, C.1    Hauschild, M.2    Klopstock, T.3    Janssen, A.J.4    Heidemann, P.H.5    Meitinger, T.6
  • 10
    • 0033059196 scopus 로고    scopus 로고
    • Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome
    • Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999, 22:309-312.
    • (1999) Nat Genet , vol.22 , pp. 309-312
    • Diaz, G.A.1    Banikazemi, M.2    Oishi, K.3    Desnick, R.J.4    Gelb, B.D.5
  • 11
    • 0033527646 scopus 로고    scopus 로고
    • Cloning of the human thiamine transporter, a member of the folate transporter family
    • Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., et al. Cloning of the human thiamine transporter, a member of the folate transporter family. J Biol Chem 1999, 274:31925-31929.
    • (1999) J Biol Chem , vol.274 , pp. 31925-31929
    • Dutta, B.1    Huang, W.2    Molero, M.3    Kekuda, R.4    Leibach, F.H.5    Devoe, L.D.6
  • 12
    • 0033064140 scopus 로고    scopus 로고
    • The gene mutated in thiamineresponsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
    • Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J. The gene mutated in thiamineresponsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999, 22:305-308.
    • (1999) Nat Genet , vol.22 , pp. 305-308
    • Fleming, J.C.1    Tartaglini, E.2    Steinkamp, M.P.3    Schorderet, D.F.4    Cohen, N.5    Neufeld, E.J.6
  • 13
    • 0032990411 scopus 로고    scopus 로고
    • Mutations in SLC19 A2 cause thiamine responsive megaloblastic anaemia associated with diabetes mellitus and deafness
    • Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., et al. Mutations in SLC19 A2 cause thiamine responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999, 22:300-304.
    • (1999) Nat Genet , vol.22 , pp. 300-304
    • Labay, V.1    Raz, T.2    Baron, D.3    Mandel, H.4    Williams, H.5    Barrett, T.6
  • 14
    • 0036850440 scopus 로고    scopus 로고
    • Targeted disruption of SLC19 a2, the gene encoding the high affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice
    • Oishi K., Hofmann S., Diaz G.A., Brown T., Manwani D., Ng L., et al. Targeted disruption of SLC19 a2, the gene encoding the high affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet 2002, 11:2951-2960.
    • (2002) Hum Mol Genet , vol.11 , pp. 2951-2960
    • Oishi, K.1    Hofmann, S.2    Diaz, G.A.3    Brown, T.4    Manwani, D.5    Ng, L.6
  • 15
    • 0035053717 scopus 로고    scopus 로고
    • Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport
    • Neufeld E.J., Fleming J.C., Tartaglini E., Steinkamp M.P. Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport. Blood Cells Mol Dis 2001, 27:135-138.
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 135-138
    • Neufeld, E.J.1    Fleming, J.C.2    Tartaglini, E.3    Steinkamp, M.P.4
  • 16
    • 73949095906 scopus 로고    scopus 로고
    • Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update
    • Bergmann A.K., Sahai I., Falcone J.F., Fleming J., Bagg A., Borgna-Pignati C., et al. Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update. Pediatr 2009, 155:888-892.
    • (2009) Pediatr , vol.155 , pp. 888-892
    • Bergmann, A.K.1    Sahai, I.2    Falcone, J.F.3    Fleming, J.4    Bagg, A.5    Borgna-Pignati, C.6
  • 17
    • 0034520569 scopus 로고    scopus 로고
    • Identification and characterization of the human and mouse SLC19 A3 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. Identification and characterization of the human and mouse SLC19 A3 gene: A novel member of the reduced folate family of micronutrient transporter genes. Mol Genet Metab 2000, 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
  • 19
    • 33750475923 scopus 로고    scopus 로고
    • Knockout of Slc25 a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
    • Lindhurst M.J., Fiermonte G., Song S., Struys E., De Leonardis F., Schwartzberg P.L., et al. Knockout of Slc25 a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A 2006, 103:15927-15932.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 15927-15932
    • Lindhurst, M.J.1    Fiermonte, G.2    Song, S.3    Struys, E.4    De Leonardis, F.5    Schwartzberg, P.L.6
  • 20
    • 46349088952 scopus 로고    scopus 로고
    • Diseases caused by defects of mitochondrial carriers: A review
    • Palmieri F. Diseases caused by defects of mitochondrial carriers: A review. Biochem Biophys Acta 2008, 1777:564-578.
    • (2008) Biochem Biophys Acta , vol.1777 , pp. 564-578
    • Palmieri, F.1
  • 22
    • 0036837666 scopus 로고    scopus 로고
    • Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
    • Kelley R.I., Robinson D., Puffenberger E.G., Strauss K.A., Morton D.H. Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 2002, 112:318-326.
    • (2002) Am J Med Genet , vol.112 , pp. 318-326
    • Kelley, R.I.1    Robinson, D.2    Puffenberger, E.G.3    Strauss, K.A.4    Morton, D.H.5
  • 23
    • 77954099503 scopus 로고    scopus 로고
    • Amish microcephaly: Long-term survival and biochemical characterization
    • Siu V.M., Ratko S., Prasad A.N., Prasad C., Rupar C.A. Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A 2010, 152:1747-1751.
    • (2010) Am J Med Genet A , vol.152 , pp. 1747-1751
    • Siu, V.M.1    Ratko, S.2    Prasad, A.N.3    Prasad, C.4    Rupar, C.A.5
  • 24
  • 25
    • 61449209903 scopus 로고    scopus 로고
    • The neuropathology of alcohol-related brain damage
    • Harper C. The neuropathology of alcohol-related brain damage. Alcohol Alcohol 2009, 44(2):136-140.
    • (2009) Alcohol Alcohol , vol.44 , Issue.2 , pp. 136-140
    • Harper, C.1
  • 26
    • 84856057720 scopus 로고    scopus 로고
    • Dry beriberi mimicking Guillain-Barré syndrome as the first presenting sign of thiamine deficiency
    • Faigle R., Mohme M., Levy M. Dry beriberi mimicking Guillain-Barré syndrome as the first presenting sign of thiamine deficiency. Eur J Neurol 2012, 19:e14-e15.
    • (2012) Eur J Neurol , vol.19
    • Faigle, R.1    Mohme, M.2    Levy, M.3
  • 27
    • 78650270315 scopus 로고    scopus 로고
    • Rapidly progressive polyneuropathy due to dry beriberi in a man: A case report
    • Howard A.J., Kulkarni O., Lekwuwa G., Emsley H.C. Rapidly progressive polyneuropathy due to dry beriberi in a man: A case report. J Med Case Rep 2010, 21(4):409.
    • (2010) J Med Case Rep , vol.21 , Issue.4 , pp. 409
    • Howard, A.J.1    Kulkarni, O.2    Lekwuwa, G.3    Emsley, H.C.4
  • 28
    • 44749086502 scopus 로고    scopus 로고
    • Rapidly developing weakness mimicking Guillain-Barré syndrome in beriberi neuropathy: Two case reports
    • Koike H., Ito S., Morozumi S., Kawagashira Y., Iijima M., Hattori N., et al. Rapidly developing weakness mimicking Guillain-Barré syndrome in beriberi neuropathy: Two case reports. Nutrition 2008, 24:776-780.
    • (2008) Nutrition , vol.24 , pp. 776-780
    • Koike, H.1    Ito, S.2    Morozumi, S.3    Kawagashira, Y.4    Iijima, M.5    Hattori, N.6
  • 29
    • 3042680099 scopus 로고    scopus 로고
    • Determination of thiamine in blood serum and urine by high-performance liquid chromatography with direct injection and post-column derivatization
    • Bohrer D., Cìcero do Nascimento P., Ramirez A.G., MendoncA J.K.A., de Carvalho L.M., Pomblum S.C.G. Determination of thiamine in blood serum and urine by high-performance liquid chromatography with direct injection and post-column derivatization. Microchem J 2004, 78:71-76.
    • (2004) Microchem J , vol.78 , pp. 71-76
    • Bohrer, D.1    Cìcero do Nascimento, P.2    Ramirez, A.G.3    MendoncA, J.K.A.4    de Carvalho, L.M.5    Pomblum, S.C.G.6
  • 30
    • 78149413323 scopus 로고    scopus 로고
    • Nutrition and alcohol-related neurologic disorders
    • Saunders Elsevier, Philadelphia, Pa, L. Goldman, A.I. Schafer (Eds.)
    • Koppel B.S. Nutrition and alcohol-related neurologic disorders. Cecil medicine 2011, Saunders Elsevier, Philadelphia, Pa. 24th ed. L. Goldman, A.I. Schafer (Eds.).
    • (2011) Cecil medicine
    • Koppel, B.S.1
  • 31
    • 33747048167 scopus 로고    scopus 로고
    • Deletion of SLC19 A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype
    • Lieberman M.C., Tartaglini E., Fleming J.C., Neufeld E.J. Deletion of SLC19 A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol 2006, 7:211-217.
    • (2006) J Assoc Res Otolaryngol , vol.7 , pp. 211-217
    • Lieberman, M.C.1    Tartaglini, E.2    Fleming, J.C.3    Neufeld, E.J.4


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