메뉴 건너뛰기




Volumn 11, Issue 3, 2000, Pages 206-212

The bovine α-glucosidase gene: Coding region, genomic structure, and mutations that cause bovine generalized glycogenosis

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; COMPLEMENTARY DNA; GLYCOGEN;

EID: 0034050816     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003350010038     Document Type: Article
Times cited : (31)

References (52)
  • 1
    • 15444351651 scopus 로고    scopus 로고
    • The identification of five novel mutations in the lysosomal acid α-(1,4) glucosidase gene from patients with glycogen storage disease type II
    • Beesley CE, Child AH, Yacoub MH (1998) The identification of five novel mutations in the lysosomal acid α-(1,4) glucosidase gene from patients with glycogen storage disease type II. Hum Mutat 11, 413
    • (1998) Hum Mutat , vol.11 , pp. 413
    • Beesley, C.E.1    Child, A.H.2    Yacoub, M.H.3
  • 2
    • 0032579460 scopus 로고    scopus 로고
    • Cloning of the murine transcriptional corepressor component SAP18 and differential expression of its mRNA in the hematopoietic hierarchy
    • Boehmelt G, Antonio L, Iscove NN (1998) Cloning of the murine transcriptional corepressor component SAP18 and differential expression of its mRNA in the hematopoietic hierarchy. Gene 207, 267-275
    • (1998) Gene , vol.207 , pp. 267-275
    • Boehmelt, G.1    Antonio, L.2    Iscove, N.N.3
  • 3
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Cotton RGH (1996) Update on nomenclature for human gene mutations. Hum Mutat 8, 197-202
    • (1996) Hum Mutat , vol.8 , pp. 197-202
    • Cotton, R.G.H.1
  • 4
    • 0033082394 scopus 로고    scopus 로고
    • RNA surveillance: Unforeseen consequences for gene expression, inherited disorders and cancer
    • Culbertson MR (1999) RNA surveillance: unforeseen consequences for gene expression, inherited disorders and cancer. Trends Genet 15, 74-80
    • (1999) Trends Genet , vol.15 , pp. 74-80
    • Culbertson, M.R.1
  • 5
    • 0013682959 scopus 로고    scopus 로고
    • Primer identities, locations and descriptions
    • Thesis (PhD), Sydney University
    • Dennis JA (1998) Primer identities, locations and descriptions. In: Molecular Definition of Bovine Generalised Glycogenosis. Thesis (PhD), Sydney University, pp 45-47
    • (1998) Molecular Definition of Bovine Generalised Glycogenosis , pp. 45-47
    • Dennis, J.A.1
  • 8
    • 0013676285 scopus 로고    scopus 로고
    • Positional candidate cloning of the bovine mh locus identifies an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle
    • Georges M, Grobet L, Poncelet D, Royo LJ, Pirottin D et al. (1998) Positional candidate cloning of the bovine mh locus identifies an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle. Proc 6th World Cong Genet App Livest Prod 26, 195-204
    • (1998) Proc 6th World Cong Genet App Livest Prod , vol.26 , pp. 195-204
    • Georges, M.1    Grobet, L.2    Poncelet, D.3    Royo, L.J.4    Pirottin, D.5
  • 9
    • 15644381757 scopus 로고    scopus 로고
    • Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle
    • Grobet L, Poncelet D, Royo LJ, Brouwers B, Pirottin D et al. (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle. Mamm Genome 9, 210-213
    • (1998) Mamm Genome , vol.9 , pp. 210-213
    • Grobet, L.1    Poncelet, D.2    Royo, L.J.3    Brouwers, B.4    Pirottin, D.5
  • 10
    • 0019929155 scopus 로고
    • Diagnosis of genotypes for generalized glycogenosis in cattle
    • Healy PJ (1982) Diagnosis of genotypes for generalized glycogenosis in cattle. Biochem Med 28, 224-228
    • (1982) Biochem Med , vol.28 , pp. 224-228
    • Healy, P.J.1
  • 11
    • 0028519299 scopus 로고
    • Molecular heterogeneity for bovine maple syrup urine disease
    • Healy PJ, Dennis JA (1994) Molecular heterogeneity for bovine maple syrup urine disease. Anim Genet 25, 329-332
    • (1994) Anim Genet , vol.25 , pp. 329-332
    • Healy, P.J.1    Dennis, J.A.2
  • 13
    • 0028369229 scopus 로고
    • Haemopoietic chimaerism: A complication in heterozygote detection tests for inherited defects in cattle
    • Healy PJ, Dennis JA, Nicholls PJ, Reichmann KG (1994) Haemopoietic chimaerism: a complication in heterozygote detection tests for inherited defects in cattle. Anim Genet 25, 1-6
    • (1994) Anim Genet , vol.25 , pp. 1-6
    • Healy, P.J.1    Dennis, J.A.2    Nicholls, P.J.3    Reichmann, K.G.4
  • 14
    • 0029349183 scopus 로고
    • Evidence of molecular heterogeneity for generalized glycogenosis between and within breeds of cattle
    • Healy PJ, Nicholls PJ, Martiniuk F, Tzall S, Hirschhorn R et al. (1995) Evidence of molecular heterogeneity for generalized glycogenosis between and within breeds of cattle. Aust Vet J 72, 309-311
    • (1995) Aust Vet J , vol.72 , pp. 309-311
    • Healy, P.J.1    Nicholls, P.J.2    Martiniuk, F.3    Tzall, S.4    Hirschhorn, R.5
  • 16
    • 0027439832 scopus 로고
    • The conservative substitution Asp-645-Glu in lysosomal α-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II
    • Hermans MMP, de Graaff E, Kroos MA, Wisselaar HA, Willemsen R et al. (1993a) The conservative substitution Asp-645-Glu in lysosomal α-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem J 289, 687-693
    • (1993) Biochem J , vol.289 , pp. 687-693
    • Hermans, M.M.P.1    De Graaff, E.2    Kroos, M.A.3    Wisselaar, H.A.4    Willemsen, R.5
  • 17
    • 0027304634 scopus 로고
    • Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II
    • Hermans MMP, Kroos MA, de Graaff E, Oostra BA, Reuser AJJ (1993b) Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II. Hum Mutat 2, 268-273
    • (1993) Hum Mutat , vol.2 , pp. 268-273
    • Hermans, M.M.P.1    Kroos, M.A.2    De Graaff, E.3    Oostra, B.A.4    Reuser, A.J.J.5
  • 18
    • 0027446596 scopus 로고
    • Human lysosomal α-glucosidase: Functional characterization of the glycosylation sites
    • Hermans MMP, Wisselaar HA, Kroos MA, Oostra BA, Reuser AJJ (1993c) Human lysosomal α-glucosidase: functional characterization of the glycosylation sites. Biochem J 289, 681-686
    • (1993) Biochem J , vol.289 , pp. 681-686
    • Hermans, M.M.P.1    Wisselaar, H.A.2    Kroos, M.A.3    Oostra, B.A.4    Reuser, A.J.J.5
  • 19
    • 0028557942 scopus 로고
    • The effect of a single base pair deletion (△T525 and a C1634T missense mutation (pro5451eu on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
    • Hermans MMP, de Graaff E, Kroos MA, Mohkamsing S, Eussen BJ et al. (1994) The effect of a single base pair deletion (△T525) and a C1634T missense mutation (pro5451eu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II. Hum Mol Genet 3, 2213-2218
    • (1994) Hum Mol Genet , vol.3 , pp. 2213-2218
    • Hermans, M.M.P.1    De Graaff, E.2    Kroos, M.A.3    Mohkamsing, S.4    Eussen, B.J.5
  • 20
    • 0031937991 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
    • Hermans MMP, Kroos MA, Smeitink JAM, van der Ploeg AT, Kleijer WJ et al. (1998) Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat 11, 209-215
    • (1998) Hum Mutat , vol.11 , pp. 209-215
    • Hermans, M.M.P.1    Kroos, M.A.2    Smeitink, J.A.M.3    Van Der Ploeg, A.T.4    Kleijer, W.J.5
  • 21
    • 0024026526 scopus 로고
    • Primary structure and processing of lysosomal α-glucosidase; homology with the intestinal sucrase-isomaltase complex
    • Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJJ et al. (1988) Primary structure and processing of lysosomal α-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J 7, 1697-1704
    • (1988) EMBO J , vol.7 , pp. 1697-1704
    • Hoefsloot, L.H.1    Hoogeveen-Westerveld, M.2    Kroos, M.A.3    Van Beeumen, J.4    Reuser, A.J.J.5
  • 23
    • 0028217853 scopus 로고
    • A de novo 13 nt deletion, a newly identified C647W missense mutation and deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
    • Huie ML, Chen AS, Sklower Brooks S, Grix A, Hirschhorn R (1994) A de novo 13 nt deletion, a newly identified C647W missense mutation and deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Mol Genet 3, 1081-1087
    • (1994) Hum Mol Genet , vol.3 , pp. 1081-1087
    • Huie, M.L.1    Chen, A.S.2    Sklower Brooks, S.3    Grix, A.4    Hirschhorn, R.5
  • 24
    • 0032571087 scopus 로고    scopus 로고
    • Glycogen storage disease type II - Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype
    • Huie ML, Tsujino S, Brooks SS, Engel A, Elias E et al. (1998) Glycogen storage disease type II - Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun 244, 921-927
    • (1998) Biochem Biophys Res Commun , vol.244 , pp. 921-927
    • Huie, M.L.1    Tsujino, S.2    Brooks, S.S.3    Engel, A.4    Elias, E.5
  • 25
    • 0022572229 scopus 로고
    • Trafficking of lysosomal enzymes in normal and disease states
    • Kornfeld S (1986) Trafficking of lysosomal enzymes in normal and disease states. J Clin Invest 77, 1-6
    • (1986) J Clin Invest , vol.77 , pp. 1-6
    • Kornfeld, S.1
  • 26
    • 0029384345 scopus 로고
    • Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
    • Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJJ et al. (1995) Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet 32, 836-837
    • (1995) J Med Genet , vol.32 , pp. 836-837
    • Kroos, M.A.1    Van Der Kraan, M.2    Van Diggelen, O.P.3    Kleijer, W.J.4    Reuser, A.J.J.5
  • 27
    • 0030841171 scopus 로고    scopus 로고
    • A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II
    • Kroos MA, Waitfield AE, Joosse M, Winchester B, Reuser AJJ et al. (1997) A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. J Inherited Metab Dis 20, 556-558
    • (1997) J Inherited Metab Dis , vol.20 , pp. 556-558
    • Kroos, M.A.1    Waitfield, A.E.2    Joosse, M.3    Winchester, B.4    Reuser, A.J.J.5
  • 28
    • 0031746688 scopus 로고    scopus 로고
    • Glycogen storage disease type II - Identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene
    • Kroos MA, van Leenen D, Verbiest J, Reuser AJJ, Hermans MMP (1998) Glycogen storage disease type II - identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene. Clin Genet 53, 379-382
    • (1998) Clin Genet , vol.53 , pp. 379-382
    • Kroos, M.A.1    Van Leenen, D.2    Verbiest, J.3    Reuser, A.J.J.4    Hermans, M.M.P.5
  • 29
    • 0030022525 scopus 로고    scopus 로고
    • Localisation and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization
    • Kuo W-L, Hirschhorn R, Huie ML, Hirschhorn K (1996) Localisation and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Hum Genet 97, 404-406
    • (1996) Hum Genet , vol.97 , pp. 404-406
    • Kuo, W.-L.1    Hirschhorn, R.2    Huie, M.L.3    Hirschhorn, K.4
  • 30
    • 0026160955 scopus 로고
    • Isolation and partial characterization of the structural gene for human acid alpha glucosidase
    • Martiniuk F, Bodkin M, Tzall S, Hirschhorn R (1991) Isolation and partial characterization of the structural gene for human acid alpha glucosidase. DNA Cell Biol 10, 283-292
    • (1991) DNA Cell Biol , vol.10 , pp. 283-292
    • Martiniuk, F.1    Bodkin, M.2    Tzall, S.3    Hirschhorn, R.4
  • 32
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky F (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 10, 1215
    • (1988) Nucleic Acids Res , vol.10 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, F.3
  • 33
    • 17344364213 scopus 로고    scopus 로고
    • DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
    • Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG et al. (1998) DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 19, 233-240
    • (1998) Nat Genet , vol.19 , pp. 233-240
    • Nickerson, D.A.1    Taylor, S.L.2    Weiss, K.M.3    Clark, A.G.4    Hutchinson, R.G.5
  • 34
    • 0031560930 scopus 로고    scopus 로고
    • Glycogen-storage disease type II (acid maltase deficiency): Identification of a novel small deletion (delCC482 + 483) in French patients
    • Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A et al. (1997) Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482 + 483) in French patients. Biochem Biophys Res Commun 235, 138-141
    • (1997) Biochem Biophys Res Commun , vol.235 , pp. 138-141
    • Nicolino, M.1    Puech, J.P.2    Letourneur, F.3    Fardeau, M.4    Kahn, A.5
  • 36
    • 0028123394 scopus 로고
    • Bovine glycogenosis type II: The molecular defect in Shorthorn cattle
    • Palmer DG, Dorling PR, Howell JMcC (1994) Bovine glycogenosis type II: the molecular defect in Shorthorn cattle. Neuromuscular Disord 4, 39-48
    • (1994) Neuromuscular Disord , vol.4 , pp. 39-48
    • Palmer, D.G.1    Dorling, P.R.2    Howell, J.3
  • 37
    • 0000314638 scopus 로고
    • Over idiopatische hypertrophie van het hart
    • Pompe JC (1932) Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneeskd 76, 304-311
    • (1932) Ned Tijdschr Geneeskd , vol.76 , pp. 304-311
    • Pompe, J.C.1
  • 38
    • 0029062275 scopus 로고
    • Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
    • Raben N, Nichols RC, Boerkoel C, Plotz P (1995) Genetic defects in patients with glycogenosis type II (acid maltase deficiency). Muscle Nerve Suppl 3, S70-S74
    • (1995) Muscle Nerve Suppl , vol.3
    • Raben, N.1    Nichols, R.C.2    Boerkoel, C.3    Plotz, P.4
  • 39
    • 0023405217 scopus 로고
    • Inhibition of bovine α-glucosidase by castanospermum australe and its effect on the biochemical identification of heterozygotes for generalised glycogenosis type II (Pompe's disease) in cattle
    • Reichmann KG, Twist JO, McKenzie RA, Rowan KJ (1987) Inhibition of bovine α-glucosidase by castanospermum australe and its effect on the biochemical identification of heterozygotes for generalised glycogenosis type II (Pompe's disease) in cattle. Aust Vet J 64, 274-276
    • (1987) Aust Vet J , vol.64 , pp. 274-276
    • Reichmann, K.G.1    Twist, J.O.2    McKenzie, R.A.3    Rowan, K.J.4
  • 40
    • 0027688603 scopus 로고
    • Clinical, diagnostic and biochemical features of generalised glycogenosis type II in Brahman cattle
    • Reichmann KG, Twist JO, Thistlethwaite EJ (1993) Clinical, diagnostic and biochemical features of generalised glycogenosis type II in Brahman cattle. Aust Vet J 70, 405-408
    • (1993) Aust Vet J , vol.70 , pp. 405-408
    • Reichmann, K.G.1    Twist, J.O.2    Thistlethwaite, E.J.3
  • 45
    • 0029987114 scopus 로고    scopus 로고
    • Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II
    • Shieh JJ, Lin CY (1996) Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II. Biochem Biophys Res Commun 219, 322-326
    • (1996) Biochem Biophys Res Commun , vol.219 , pp. 322-326
    • Shieh, J.J.1    Lin, C.Y.2
  • 47
    • 0030921264 scopus 로고    scopus 로고
    • Purification of bovine lysosomal α-mannosidase, characterization of its gene and determination of two mutations that cause α-mannosidosis
    • Tollersrud OK, Berg T, Healy P, Evjen G, Ramachandran U et al. (1997) Purification of bovine lysosomal α-mannosidase, characterization of its gene and determination of two mutations that cause α-mannosidosis. Eur J Biochem 246, 410-419
    • (1997) Eur J Biochem , vol.246 , pp. 410-419
    • Tollersrud, O.K.1    Berg, T.2    Healy, P.3    Evjen, G.4    Ramachandran, U.5
  • 48
    • 0030064815 scopus 로고    scopus 로고
    • Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease
    • Tsujino S, Shanske S, Valberg SJ, Cardinet GHI, Smith BP et al. (1996) Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. Neuromuscular Disord 6, 19-26
    • (1996) Neuromuscular Disord , vol.6 , pp. 19-26
    • Tsujino, S.1    Shanske, S.2    Valberg, S.J.3    Cardinet, G.H.I.4    Smith, B.P.5
  • 49
    • 0027378250 scopus 로고
    • Synthesis and in situ localisation of lysosomal α-glucosidase in muscle of an unusual variant of glycogen storage disease type II
    • Willemsen R, van der Ploeg AT, Busch HFM, Zondervan PE, Van Noorden CJF et al. (1993) Synthesis and in situ localisation of lysosomal α-glucosidase in muscle of an unusual variant of glycogen storage disease Type II. Ultrastruct Pathol 17, 515-527
    • (1993) Ultrastruct Pathol , vol.17 , pp. 515-527
    • Willemsen, R.1    Van Der Ploeg, A.T.2    Busch, H.F.M.3    Zondervan, P.E.4    Van Noorden, C.J.F.5
  • 51
    • 0027392113 scopus 로고
    • Structural and functional changes of lysosomal acid α-glucosidase during intracellular transport and maturation
    • Wisselaar HA, Kroos MA, Hermans MMP, van Beeumen J, Reuser AJJ (1993b) Structural and functional changes of lysosomal acid α-glucosidase during intracellular transport and maturation. J Biol Chem 268, 2223-2231
    • (1993) J Biol Chem , vol.268 , pp. 2223-2231
    • Wisselaar, H.A.1    Kroos, M.A.2    Hermans, M.M.P.3    Van Beeumen, J.4    Reuser, A.J.J.5
  • 52
    • 0025329551 scopus 로고
    • Premature translation termination of the pre-Elα subunit of the branched chain α-ketoacid dehydrogenase as a cause of maple syrup urine disease in polled Hereford calves
    • Zhang B, Healy PJ, Crabb DW, Harris RA (1990) Premature translation termination of the pre-Elα subunit of the branched chain α-ketoacid dehydrogenase as a cause of maple syrup urine disease in polled Hereford calves. J Biol Chem 265, 2425-2427
    • (1990) J Biol Chem , vol.265 , pp. 2425-2427
    • Zhang, B.1    Healy, P.J.2    Crabb, D.W.3    Harris, R.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.