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Volumn 91, Issue 10, 1998, Pages 3593-3600

The human intrinsic factor-vitamin B12 receptor, cubilin: Molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; INTRINSIC FACTOR;

EID: 0032525203     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.10.3593.3593_3593_3600     Document Type: Article
Times cited : (149)

References (32)
  • 1
    • 0022369431 scopus 로고
    • Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis
    • Yang YM, Ducos R, Rosenberg AJ, Catrou PG, Levine JS, Podell ER, Allen RH: Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis. J Clin Invest 76:2057, 1985
    • (1985) J Clin Invest , vol.76 , pp. 2057
    • Yang, Y.M.1    Ducos, R.2    Rosenberg, A.J.3    Catrou, P.G.4    Levine, J.S.5    Podell, E.R.6    Allen, R.H.7
  • 2
    • 0015231529 scopus 로고
    • Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings
    • Hakami N, Neiman PE, Canellos GP, Lazerson J: Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. N Engl J Med 285:1163, 1971
    • (1971) N Engl J Med , vol.285 , pp. 1163
    • Hakami, N.1    Neiman, P.E.2    Canellos, G.P.3    Lazerson, J.4
  • 3
    • 72849184034 scopus 로고
    • Idiopathic chronic megaloblastic anemia in children
    • Imerslund O: Idiopathic chronic megaloblastic anemia in children. Acta Paedr Scand 49:1, 1960
    • (1960) Acta Paedr Scand , vol.49 , pp. 1
    • Imerslund, O.1
  • 5
    • 0029051308 scopus 로고
    • Decreased activity of intestinal and urinary intrinsic factor receptor in Grasbeck-Imerslund disease
    • erratum 109:1722, 1995
    • Gueant JL, Saunier M, Gastin I, Safi A, Lamireau T, Duclos B, Bigard MA, Grasbeck R: Decreased activity of intestinal and urinary intrinsic factor receptor in Grasbeck-Imerslund disease. Gastroenterology 108:1622, 1995 (erratum 109:1722, 1995)
    • (1995) Gastroenterology , vol.108 , pp. 1622
    • Gueant, J.L.1    Saunier, M.2    Gastin, I.3    Safi, A.4    Lamireau, T.5    Duclos, B.6    Bigard, M.A.7    Grasbeck, R.8
  • 6
    • 0029101674 scopus 로고
    • Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: Assignment of a locus to chromosome 10 by linkage
    • Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, de la Chapelle A: Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: Assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 57:824, 1995
    • (1995) Am J Hum Genet , vol.57 , pp. 824
    • Aminoff, M.1    Tahvanainen, E.2    Gräsbeck, R.3    Weissenbach, J.4    Broch, H.5    De La Chapelle, A.6
  • 8
    • 0030988207 scopus 로고    scopus 로고
    • Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor
    • Seetharam B, Christensen EI, Moestrup SK, Hammond TG, Verroust PJ: Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor. J Clin Invest 99:2317, 1997
    • (1997) J Clin Invest , vol.99 , pp. 2317
    • Seetharam, B.1    Christensen, E.I.2    Moestrup, S.K.3    Hammond, T.G.4    Verroust, P.J.5
  • 10
    • 0001913147 scopus 로고
    • Intrinsic factor-cobalamin receptor expression: An overview
    • Bhatt HR, James VHT, Besser GM, Bottazzo GF, Keen H (eds): Almondsbury, Bristol, UK, Journal of Endocrinology Ltd
    • Seetharam B, Seetharam S, Li N, Ramanujam KS: Intrinsic factor-cobalamin receptor expression: An overview, in Bhatt HR, James VHT, Besser GM, Bottazzo GF, Keen H (eds): Advances in Thomas Addisons's Diseases, vol 2. Almondsbury, Bristol, UK, Journal of Endocrinology Ltd, 1994, p 293
    • (1994) Advances in Thomas Addisons's Diseases , vol.2 , pp. 293
    • Seetharam, B.1    Seetharam, S.2    Li, N.3    Ramanujam, K.S.4
  • 12
    • 0028988551 scopus 로고
    • 39 kDa receptorassociated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein
    • Bu G, Geuze HJ, Strous GJ, Schwartz AL: 39 kDa receptorassociated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. EMBOJ 14:2269, 1995
    • (1995) EMBOJ , vol.14 , pp. 2269
    • Bu, G.1    Geuze, H.J.2    Strous, G.J.3    Schwartz, A.L.4
  • 13
    • 0029887302 scopus 로고    scopus 로고
    • RAP, a specialized chaperone, prevents ligandinduced ER retention and degradation of LDL receptor-related endocytic receptors
    • Willnow TE, Rohlmann A, Horton J, Otani H, Braun JR, Hammer RE, Herz J: RAP, a specialized chaperone, prevents ligandinduced ER retention and degradation of LDL receptor-related endocytic receptors. EMBO J 15:2632, 1996
    • (1996) EMBO J , vol.15 , pp. 2632
    • Willnow, T.E.1    Rohlmann, A.2    Horton, J.3    Otani, H.4    Braun, J.R.5    Hammer, R.E.6    Herz, J.7
  • 14
    • 0017090592 scopus 로고
    • Changes in the ultraviolet and circular dichroism spectra of aquo-, hydroxy-, azido-, and cyanocobalamin when bound to human intrinsic factor or human transcobalamin I
    • NexØ E, Olesen H: Changes in the ultraviolet and circular dichroism spectra of aquo-, hydroxy-, azido-, and cyanocobalamin when bound to human intrinsic factor or human transcobalamin I. Biochim Biophys Acta 446:143, 1976
    • (1976) Biochim Biophys Acta , vol.446 , pp. 143
    • Nexø, E.1    Olesen, H.2
  • 17
    • 0029010375 scopus 로고
    • Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders
    • Tommerup N, Vissing H: Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. Genomics 27:259, 1995
    • (1995) Genomics , vol.27 , pp. 259
    • Tommerup, N.1    Vissing, H.2
  • 20
    • 0030008257 scopus 로고    scopus 로고
    • Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones
    • Bray WP, Menninger J, Lieman J, Desai T, Mokady N, Banks A, Ward DC: Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones. Genomics 32:1, 1996
    • (1996) Genomics , vol.32 , pp. 1
    • Bray, W.P.1    Menninger, J.2    Lieman, J.3    Desai, T.4    Mokady, N.5    Banks, A.6    Ward, D.C.7
  • 22
    • 0029127648 scopus 로고
    • A strategy for the identification of candidate genes for alcohol-related phenotypes and other human disorders using rapid polymerase chain reaction mapping of gene-based sequence-tagged sites
    • Berry R, Walter NA, Stevens TJ, Rubano T, Wilcox AS, Hopkins JA, Sikela JM: A strategy for the identification of candidate genes for alcohol-related phenotypes and other human disorders using rapid polymerase chain reaction mapping of gene-based sequence-tagged sites. Alcohol Clin Exp Res 19:821, 1995
    • (1995) Alcohol Clin Exp Res , vol.19 , pp. 821
    • Berry, R.1    Walter, N.A.2    Stevens, T.J.3    Rubano, T.4    Wilcox, A.S.5    Hopkins, J.A.6    Sikela, J.M.7
  • 23
    • 0003134752 scopus 로고    scopus 로고
    • Vitamin B12 binding proteins
    • Kräutler B (ed): Weinheim, Germany, Wiley-VCH, Verlag GmbH
    • Nexø E: Vitamin B12 binding proteins, in Kräutler B (ed): In B12 and B12 Binding Proteins. Weinheim, Germany, Wiley-VCH, Verlag GmbH, 1998, p 461
    • (1998) B12 and B12 Binding Proteins , pp. 461
    • Nexø, E.1
  • 24
  • 25
    • 0028906190 scopus 로고
    • Processing of transforming growth factor beta 1 precursor by human furin convertase
    • Dubois CM, Laprise MH, Blanchette F, Gentry LE, Leduc R: Processing of transforming growth factor beta 1 precursor by human furin convertase. J Biol Chem 270:10618, 1995
    • (1995) J Biol Chem , vol.270 , pp. 10618
    • Dubois, C.M.1    Laprise, M.H.2    Blanchette, F.3    Gentry, L.E.4    Leduc, R.5
  • 26
    • 0027973010 scopus 로고
    • Accurate and efficient cleavage of the human insulin proreceptor by the human proprotein-processing protease furin. Characterization and kinetic parameters using the purified, secreted soluble protease expressed by a recombinant baculovirus
    • Bravo DA, Gleason JB, Sanchez RI, Roth RA, Fuller RS: Accurate and efficient cleavage of the human insulin proreceptor by the human proprotein-processing protease furin. Characterization and kinetic parameters using the purified, secreted soluble protease expressed by a recombinant baculovirus. J Biol Chem 269:25830, 1994
    • (1994) J Biol Chem , vol.269 , pp. 25830
    • Bravo, D.A.1    Gleason, J.B.2    Sanchez, R.I.3    Roth, R.A.4    Fuller, R.S.5
  • 27
    • 0028981079 scopus 로고
    • Unusual processing of GP280, a protein associated with the intermicro villar areas of yolk sac epithelial cells: Plasma membrane delivery of immature protein
    • Baricault L, Galceran M, Ronco PM, Trugnan G, Verroust PJ: Unusual processing of GP280, a protein associated with the intermicro villar areas of yolk sac epithelial cells: Plasma membrane delivery of immature protein. Biochem Biophys Res Commun 212:353, 1995
    • (1995) Biochem Biophys Res Commun , vol.212 , pp. 353
    • Baricault, L.1    Galceran, M.2    Ronco, P.M.3    Trugnan, G.4    Verroust, P.J.5
  • 28
    • 0028899710 scopus 로고
    • Role of clathrin-coated vesicles in glycoprotein transport from the cell surface to the Golgi complex
    • Bos CR, Shank SL, Snider MD: Role of clathrin-coated vesicles in glycoprotein transport from the cell surface to the Golgi complex. J Biol Chem 270:665, 1995
    • (1995) J Biol Chem , vol.270 , pp. 665
    • Bos, C.R.1    Shank, S.L.2    Snider, M.D.3
  • 29
    • 0025865890 scopus 로고
    • Defective brush-border expression of intrinsic factor-cobalamin receptor in canine inherited intestinal cobalamin malabsorption
    • Fyfe JC, Ramanujam KS, Ramaswamy K, Patterson DF, Seetharam B: Defective brush-border expression of intrinsic factor-cobalamin receptor in canine inherited intestinal cobalamin malabsorption. J Biol Chem 266:4489, 1991
    • (1991) J Biol Chem , vol.266 , pp. 4489
    • Fyfe, J.C.1    Ramanujam, K.S.2    Ramaswamy, K.3    Patterson, D.F.4    Seetharam, B.5
  • 30
    • 0026233516 scopus 로고
    • Normal and abnormal physiology of intrinsic factor mediated absorption of cobalamin (vitamin B12)
    • Seetharam B,. Ramanujam KS, Seetharam S, Li N, Fyfe JC: Normal and abnormal physiology of intrinsic factor mediated absorption of cobalamin (vitamin B12). Indian J Biochem Biophys 28:324, 1991
    • (1991) Indian J Biochem Biophys , vol.28 , pp. 324
    • Ramanujam Ks, S.B.1    Seetharam, S.2    Li, N.3    Fyfe, J.C.4
  • 31
    • 0027947017 scopus 로고
    • Digitized and differentially shaded human chromosome ideograms for genomic applications
    • Francke U: Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet 65:206, 1994
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 206
    • Francke, U.1
  • 32
    • 0027190974 scopus 로고
    • The CUB domain. A widespread module in developmentally regulated proteins
    • Bork P, Beckmann G: The CUB domain. A widespread module in developmentally regulated proteins. J Mol Biol 231:539, 1993
    • (1993) J Mol Biol , vol.231 , pp. 539
    • Bork, P.1    Beckmann, G.2


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