메뉴 건너뛰기




Volumn 316, Issue 10, 1987, Pages 570-575

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 0023131172     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM198703053161002     Document Type: Article
Times cited : (255)

References (43)
  • 1
    • 0001973683 scopus 로고
    • A deficiency of glucocerebrosidase in Gaucher's disease
    • Patrick AD. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem J 1965; 97: Suppl: 17c–18c.
    • (1965) Biochem J , vol.97 , pp. 17c-18c
    • Patrick, A.D.1
  • 2
    • 50549198437 scopus 로고
    • Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
    • Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965; 18: 221–5.
    • (1965) Biochem Biophys Res Commun , vol.18 , pp. 221-225
    • Brady, R.O.1    Kanfer, J.N.2    Shapiro, D.3
  • 3
    • 0002640157 scopus 로고
    • Glucosylceramide lipidosis: Gaucher's disease
    • In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill
    • Brady RO, Barranger JA. Glucosylceramide lipidosis: Gaucher's disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:842–56.
    • (1983) , pp. 842-856
    • Brady, R.O.1    Barranger, J.A.2
  • 4
    • 0020358380 scopus 로고
    • Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease
    • Ginns EI, Brady RO, Pirruccello S, et al. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci USA 1982; 79: 5607–10.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 5607-5610
    • Ginns, E.I.1    Brady, R.O.2    Pirruccello, S.3
  • 5
    • 0020512329 scopus 로고
    • Determination of Gaucher's disease phenotypes with monoclonal antibody
    • Ginns EI, Tegelaers FPW, Barneveld R, et al. Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta 1983; 131: 283–7.
    • (1983) Clin Chim Acta , vol.131 , pp. 283-287
    • Ginns, E.I.1    Tegelaers, F.P.W.2    Barneveld, R.3
  • 6
    • 0022386744 scopus 로고
    • Biosynthesis of the lysosomal enzyme glucocerebrosidase
    • Erickson AH, Ginns EI, Barranger JA. Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 1985; 260: 14319–24.
    • (1985) J Biol Chem , vol.260 , pp. 14319-14324
    • Erickson, A.H.1    Ginns, E.I.2    Barranger, J.A.3
  • 7
    • 84977290051 scopus 로고
    • The molecular biology of the sphingolipid hydrolases
    • Ginns EI. The molecular biology of the sphingolipid hydrolases. Bioessays 1985; 2: 118–22.
    • (1985) Bioessays , vol.2 , pp. 118-122
    • Ginns, E.I.1
  • 8
    • 84912408232 scopus 로고
    • Characterization of lysosomal glucocerebrosidase in normal and Gaucher's disease tissues
    • abstract.
    • Ginns EI, Laszlow DJ, Moore C, Brady RO, Barranger JA. Characterization of lysosomal glucocerebrosidase in normal and Gaucher's disease tissues. Fed Proc 1983; 42: 1912. abstract.
    • (1983) Fed Proc , vol.42 , pp. 1912
    • Ginns, E.I.1    Laszlow, D.J.2    Moore, C.3    Brady, R.O.4    Barranger, J.A.5
  • 9
    • 17144458616 scopus 로고
    • Processing of βglucocerebrosidase in fibroblasts
    • abstract.
    • Jonsson LV, Murray GJ, Ginns EI, et al. Processing of βglucocerebrosidase in fibroblasts. Fed Proc 1985; 44: 709. abstract.
    • (1985) Fed Proc , vol.44 , pp. 709
    • Jonsson, L.V.1    Murray, G.J.2    Ginns, E.I.3
  • 10
    • 0021013191 scopus 로고
    • Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single “Gaucher gene
    • Gravel RA, Leung A. Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single “Gaucher gene.” Hum Genet 1983; 65: 112–6.
    • (1983) Hum Genet , vol.65 , pp. 112-116
    • Gravel, R.A.1    Leung, A.2
  • 11
    • 0020633088 scopus 로고
    • Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage
    • Wenger DA, Roth S, Kudoh T, et al. Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage. Pediatr Res 1983; 17: 344–8.
    • (1983) Pediatr Res , vol.17 , pp. 344-348
    • Wenger, D.A.1    Roth, S.2    Kudoh, T.3
  • 13
    • 0021123304 scopus 로고
    • Isolation of cDNA clones for human β-glucocerebrosidase using the λgt11 expression system
    • Ginns EI, Choudary PV, Martin BM, et al, Isolation of cDNA clones for human β-glucocerebrosidase using the λgt11 expression system. Biochem Biophys Res Commun 1984; 123: 574–80.
    • (1984) Biochem Biophys Res Commun , vol.123 , pp. 574-580
    • Ginns, E.I.1    Choudary, P.V.2    Martin, B.M.3
  • 14
    • 0021855168 scopus 로고
    • Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene
    • Sorge J, Gelbart T, West C, Westwood B, Beutler E. Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. Proc Natl Acad Sci USA 1985; 82: 5442–5.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 5442-5445
    • Sorge, J.1    Gelbart, T.2    West, C.3    Westwood, B.4    Beutler, E.5
  • 15
    • 0022345601 scopus 로고
    • Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA
    • Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA 1985; 82: 7289–93.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 7289-7293
    • Sorge, J.1    West, C.2    Westwood, B.3    Beutler, E.4
  • 16
    • 84889427756 scopus 로고
    • Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA
    • Correction of
    • Correction of: Sorge J, West C, Westwood B, Beutler E. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA 1986; 83: 3567.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 3567
    • Sorge, J.1    West, C.2    Westwood, B.3    Beutler, E.4
  • 17
    • 0022650774 scopus 로고
    • Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase
    • Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 1986; 261: 50–3.
    • (1986) J Biol Chem , vol.261 , pp. 50-53
    • Tsuji, S.1    Choudary, P.V.2    Martin, B.M.3    Winfield, S.4    Barranger, J.A.5    Ginns, E.I.6
  • 18
    • 2642707314 scopus 로고
    • Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease
    • Ginns EI, Choudary PV, Tsuji S, et al. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 1985; 82: 7101–5.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 7101-7105
    • Ginns, E.I.1    Choudary, P.V.2    Tsuji, S.3
  • 19
    • 3643099952 scopus 로고
    • Molecular cloning and analysis of the human β-glucocerebrosidase gene
    • abstract.
    • Choudary PV, Ginns EI, Barranger JA. Molecular cloning and analysis of the human β-glucocerebrosidase gene. DNA 1985; 4: 74. abstract.
    • (1985) DNA , vol.4 , pp. 74
    • Choudary, P.V.1    Ginns, E.I.2    Barranger, J.A.3
  • 21
    • 0021085263 scopus 로고
    • Lambda replacement vectors carrying polylinker sequences
    • Frischauf A-M, Lehrach H, Poustka A, Murrary N. Lambda replacement vectors carrying polylinker sequences. J Mol Biol 1983; 170: 827–42.
    • (1983) J Mol Biol , vol.170 , pp. 827-842
    • Frischauf, A.-M.1    Lehrach, H.2    Poustka, A.3    Murrary, N.4
  • 23
    • 0021943866 scopus 로고
    • Supercoil sequencing: a fast and simple method for sequencing plasmid DNA
    • Chen EY, Seeburg PH. Supercoil sequencing: a fast and simple method for sequencing plasmid DNA. DNA 1985; 4: 165–70.
    • (1985) DNA , vol.4 , pp. 165-170
    • Chen, E.Y.1    Seeburg, P.H.2
  • 24
    • 0020793217 scopus 로고
    • Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination
    • Biggin MD, Gibson TJ, Hong GF. Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination. Proc Natl Acad Sci USA 1983; 80: 3963–5.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 3963-3965
    • Biggin, M.D.1    Gibson, T.J.2    Hong, G.F.3
  • 25
    • 49149135789 scopus 로고
    • Deoxynucleoside phosphoramidites — a new class of key intermediates for deoxypolynucleotide synthesis
    • Beaucage SL, Caruthers MH. Deoxynucleoside phosphoramidites — a new class of key intermediates for deoxypolynucleotide synthesis. Tetrahedron Lett 1981; 22: 1859–62.
    • (1981) Tetrahedron Lett , vol.22 , pp. 1859-1862
    • Beaucage, S.L.1    Caruthers, M.H.2
  • 26
    • 33845556076 scopus 로고
    • Synthesis of deoxyoligonucleotides on a polymer support
    • Matteucci MD, Caruthers MH. Synthesis of deoxyoligonucleotides on a polymer support. J Am Chem Soc 1981; 103: 3185–9.
    • (1981) J Am Chem Soc , vol.103 , pp. 3185-3189
    • Matteucci, M.D.1    Caruthers, M.H.2
  • 27
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503–17.
    • (1975) J Mol Biol , vol.98 , pp. 503-517
    • Southern, E.M.1
  • 28
    • 0000861357 scopus 로고
    • Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate
    • Wahl GM, Stern M, Stark GR. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci USA 1979; 76: 3683–7.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 3683-3687
    • Wahl, G.M.1    Stern, M.2    Stark, G.R.3
  • 29
    • 0021635410 scopus 로고
    • Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human βA- and β-s-globin genes
    • Studencki AB, Wallace RB. Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human βA- and β-s-globin genes. DNA 1984; 3: 7–15.
    • (1984) DNA , vol.3 , pp. 7-15
    • Studencki, A.B.1    Wallace, R.B.2
  • 30
    • 0022550222 scopus 로고
    • Evaluation of “at risk” alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes
    • Nukiwa T, Brantly M, Garver R, et al. Evaluation of “at risk” alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. J Clin Invest 1986; 77: 528–37.
    • (1986) J Clin Invest , vol.77 , pp. 528-537
    • Nukiwa, T.1    Brantly, M.2    Garver, R.3
  • 31
    • 0014013696 scopus 로고
    • A membrane-filter technique for the detection of complementary DNA
    • Denhardt DT. A membrane-filter technique for the detection of complementary DNA. Biochem Biophys Res Commun 1966; 23: 641–6.
    • (1966) Biochem Biophys Res Commun , vol.23 , pp. 641-646
    • Denhardt, D.T.1
  • 32
    • 0017873321 scopus 로고
    • Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins
    • Garnier J, Osguthorpe DJ, Robson B. Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J Mol Biol 1978; 120: 97–120.
    • (1978) J Mol Biol , vol.120 , pp. 97-120
    • Garnier, J.1    Osguthorpe, D.J.2    Robson, B.3
  • 33
    • 84939400845 scopus 로고
    • Characterization of human glucocerebrosidase genes: identification of a mutation in Gaucher disease
    • abstract.
    • Tsuji S, Choudary PV, Martin BM, et al. Characterization of human glucocerebrosidase genes: identification of a mutation in Gaucher disease. Am J Hum Genet 1986; 39: A222. abstract.
    • (1986) Am J Hum Genet , vol.39 , pp. A222
    • Tsuji, S.1    Choudary, P.V.2    Martin, B.M.3
  • 34
    • 0343646886 scopus 로고
    • Human acid β-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site
    • Dinur T, Osiecki KM, Legler G, Gatt S, Desnick RJ, Grabowski GA. Human acid β-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci USA 1986; 83: 1660–4.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 1660-1664
    • Dinur, T.1    Osiecki, K.M.2    Legler, G.3    Gatt, S.4    Desnick, R.J.5    Grabowski, G.A.6
  • 35
    • 0017815428 scopus 로고
    • Amino acid sequence at the active site of β-glucosidase A from bitter almonds
    • Legler G, Harder A. Amino acid sequence at the active site of β-glucosidase A from bitter almonds. Biochim Biophys Acta 1978; 524: 102–8.
    • (1978) Biochim Biophys Acta , vol.524 , pp. 102-108
    • Legler, G.1    Harder, A.2
  • 36
    • 0014426230 scopus 로고
    • HemoglobinBibba or α2136Proβ2, an unstable α chain abnormal hemoglobin
    • Kleihauer EF, Reynolds CA, Dozy AM, et al. HemoglobinBibba or α2136Proβ2, an unstable α chain abnormal hemoglobin. Biochim Biophys Acta 1968; 154: 220–2.
    • (1968) Biochim Biophys Acta , vol.154 , pp. 220-222
    • Kleihauer, E.F.1    Reynolds, C.A.2    Dozy, A.M.3
  • 37
    • 0014218495 scopus 로고
    • Haemoglobin Genova: β28 (B10) Leucine→Proline
    • Sansone G, Carrell RW, Lehmann H. Haemoglobin Genova: β28 (B10) Leucine→Proline. Nature 1967; 214: 877–9.
    • (1967) Nature , vol.214 , pp. 877-879
    • Sansone, G.1    Carrell, R.W.2    Lehmann, H.3
  • 38
    • 0019972564 scopus 로고
    • Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia
    • Goossens M, Lee KY, Liebhaber SA, Kan YW. Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia. Nature 1982; 296: 864–5.
    • (1982) Nature , vol.296 , pp. 864-865
    • Goossens, M.1    Lee, K.Y.2    Liebhaber, S.A.3    Kan, Y.W.4
  • 39
    • 0005188076 scopus 로고
    • Base substitution in an intervening sequence of a β+-thalassemic human globin gene
    • Spritz RA, Jagadeeswaran P, Choudary PV, et al. Base substitution in an intervening sequence of a β+-thalassemic human globin gene. Proc Natl Acad Sci USA 1981; 78: 2455–9.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 2455-2459
    • Spritz, R.A.1    Jagadeeswaran, P.2    Choudary, P.V.3
  • 40
    • 0019778340 scopus 로고
    • β+ Thalassemia: aberrant splicing results from a single point mutation in an intron
    • Busslinger M, Moschonas N, Flavell RA. β+ Thalassemia: aberrant splicing results from a single point mutation in an intron. Cell 1981; 27: 289–98.
    • (1981) Cell , vol.27 , pp. 289-298
    • Busslinger, M.1    Moschonas, N.2    Flavell, R.A.3
  • 41
    • 0000328467 scopus 로고
    • The fusion of two peptide chains in hemoglobin lepore and its interpretation as a genetic deletion
    • Baglioni C. The fusion of two peptide chains in hemoglobin lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA 1962; 48: 1880–6.
    • (1962) Proc Natl Acad Sci USA , vol.48 , pp. 1880-1886
    • Baglioni, C.1
  • 42
    • 0018777020 scopus 로고
    • The molecular basis of α-thalassemias: frequent occurrence of dysfunctional a loci among non-Asians with Hb H disease
    • Orkin SH. Old J, Lazarus H, et al. The molecular basis of α-thalassemias: frequent occurrence of dysfunctional a loci among non-Asians with Hb H disease. Cell 1979; 17: 33–42.
    • (1979) Cell , vol.17 , pp. 33-42
    • Orkin, S.H.1    Old, J.2    Lazarus, H.3
  • 43
    • 0018902027 scopus 로고
    • Unequal crossing-over: a common basis of single a-globin genes in Asians and American blacks with hemoglobin-H disease
    • Phillips JA III, Vik TA, Scott AF, et al. Unequal crossing-over: a common basis of single a-globin genes in Asians and American blacks with hemoglobin-H disease. Blood 1980; 55: 1066–9.
    • (1980) Blood , vol.55 , pp. 1066-1069
    • Phillips, J.A.1    Vik, T.A.2    Scott, A.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.