메뉴 건너뛰기




Volumn 6, Issue 1, 1996, Pages 19-26

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease

Author keywords

Animal model; Gene defect; Myophosphorylase deficiency

Indexed keywords

ARGININE; COMPLEMENTARY DNA; GLYCOGEN PHOSPHORYLASE; MUSCLE ENZYME; PYRIDOXAL 5 PHOSPHATE; RNA; TRYPTOPHAN;

EID: 0030064815     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(95)00014-3     Document Type: Article
Times cited : (36)

References (28)
  • 1
    • 84924923845 scopus 로고
    • Myopathy due to a defect in muscle glycogen breakdown
    • McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 1951; 10: 13-33.
    • (1951) Clin Sci , vol.10 , pp. 13-33
    • McArdle, B.1
  • 3
    • 0000487854 scopus 로고
    • Chronic progressive myopathy with myoglobinuria: Demonstration of a glycogenolytic defect in the muscle
    • Schmidt R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest 1959; 38: 2044-2058.
    • (1959) J Clin Invest , vol.38 , pp. 2044-2058
    • Schmidt, R.1    Mahler, R.2
  • 4
    • 0001154148 scopus 로고
    • Nonlysosomal glycogenoses
    • Engel A G, Franzini-Armstrong C, eds New York: McGraw-Hill
    • DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Engel A G, Franzini-Armstrong C, eds. Myology. 2nd New York: McGraw-Hill, 1994; 1554-1576.
    • (1994) Myology. 2nd , pp. 1554-1576
    • DiMauro, S.1    Tsujino, S.2
  • 5
    • 0023038238 scopus 로고
    • Complete cDNA sequence for rabbit muscle glycogen phosphorylase
    • Nakano K, Hwang P K, Fletterick R J. Complete cDNA sequence for rabbit muscle glycogen phosphorylase. FEBS Lett 1986; 204: 283-287.
    • (1986) FEBS Lett , vol.204 , pp. 283-287
    • Nakano, K.1    Hwang, P.K.2    Fletterick, R.J.3
  • 6
    • 0022505764 scopus 로고
    • Isolation of partial cDNAs for rat liver and muscle glycogen phosphorylase isozymes
    • Osawa S, Chiu R H, McDonough A, Miller T B Jr, Johnson G L. Isolation of partial cDNAs for rat liver and muscle glycogen phosphorylase isozymes. FEBS Lett 1986; 202: 282-288.
    • (1986) FEBS Lett , vol.202 , pp. 282-288
    • Osawa, S.1    Chiu, R.H.2    McDonough, A.3    Miller T.B., Jr.4    Johnson, G.L.5
  • 8
    • 0023136245 scopus 로고
    • Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency): RNA and DNA analysis
    • Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus J-C. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency): RNA and DNA analysis. J Clin Invest 1987; 79: 275-281.
    • (1987) J Clin Invest , vol.79 , pp. 275-281
    • Gautron, S.1    Daegelen, D.2    Mennecier, F.3    Dubocq, D.4    Kahn, A.5    Dreyfus, J.-C.6
  • 9
    • 0023613527 scopus 로고
    • Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase
    • Burke J, Hwang P, Anderson L, Gorin F, Fletterick R J. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins 1987; 2: 177-187.
    • (1987) Proteins , vol.2 , pp. 177-187
    • Burke, J.1    Hwang, P.2    Anderson, L.3    Gorin, F.4    Fletterick, R.J.5
  • 10
    • 0021240538 scopus 로고
    • High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11
    • Lebo R V, Gorin F, Fletterick R J et al. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science 1984; 225: 57-59.
    • (1984) Science , vol.225 , pp. 57-59
    • Lebo, R.V.1    Gorin, F.2    Fletterick, R.J.3
  • 11
    • 0027194215 scopus 로고
    • Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
    • Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993; 329: 241-245.
    • (1993) N Engl J Med , vol.329 , pp. 241-245
    • Tsujino, S.1    Shanske, S.2    Dimauro, S.3
  • 12
    • 0027302919 scopus 로고
    • McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all of the cases
    • Bartram C, Edwards R H T, Clague J, Beynon R J. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all of the cases. Hum Mol Genet 1993; 2: 1291-1293.
    • (1993) Hum Mol Genet , vol.2 , pp. 1291-1293
    • Bartram, C.1    Edwards, R.H.T.2    Clague, J.3    Beynon, R.J.4
  • 13
    • 0028047270 scopus 로고
    • Three new mutations in patients with myophosphorylase deficiency (McArdle's disease)
    • Tsujino S, Shanske S, Nonaka I et al. Three new mutations in patients with myophosphorylase deficiency (McArdle's disease). Am J Hum Genet 1994; 54: 44-52.
    • (1994) Am J Hum Genet , vol.54 , pp. 44-52
    • Tsujino, S.1    Shanske, S.2    Nonaka, I.3
  • 14
    • 0028241762 scopus 로고
    • An A-to-C substitution involving the translation initiation codon in myophosphorylase deficiency (McArdle's disease)
    • Tsujino S, Rubin L A, Shanske S, DiMauro S. An A-to-C substitution involving the translation initiation codon in myophosphorylase deficiency (McArdle's disease). Hum Mutat 1994; 4: 73-75.
    • (1994) Hum Mutat , vol.4 , pp. 73-75
    • Tsujino, S.1    Rubin, L.A.2    Shanske, S.3    DiMauro, S.4
  • 15
    • 0028339375 scopus 로고
    • Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
    • Tsujino S, Shanske S, Goto Y, Nonaka I, DiMauro S. Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease. Hum Mol Genet 1994; 3: 1005-1006.
    • (1994) Hum Mol Genet , vol.3 , pp. 1005-1006
    • Tsujino, S.1    Shanske, S.2    Goto, Y.3    Nonaka, I.4    DiMauro, S.5
  • 16
    • 85031214018 scopus 로고    scopus 로고
    • Two novel missense mutations in Caucasian patients with myophosphorylase deficiency (McArdle's disease)
    • in press
    • Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S. Two novel missense mutations in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum Mutat (in press).
    • Hum Mutat
    • Tsujino, S.1    Shanske, S.2    Martinuzzi, A.3    Heiman-Patterson, T.4    DiMauro, S.5
  • 17
    • 0028095625 scopus 로고
    • McArdle's disease: A rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
    • Bartram C, Edwards R H T, Clague J, Beynon R J. McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene. Biochem Biophys Acta 1994; 1226: 341-343.
    • (1994) Biochem Biophys Acta , vol.1226 , pp. 341-343
    • Bartram, C.1    Edwards, R.H.T.2    Clague, J.3    Beynon, R.J.4
  • 18
    • 0029037248 scopus 로고
    • Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in six related Charolais cattle
    • Angelos S, Valberg S J, Smith B P et al. Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in six related Charolais cattle. Muscle Nerve 1995; 18: 736-740.
    • (1995) Muscle Nerve , vol.18 , pp. 736-740
    • Angelos, S.1    Valberg, S.J.2    Smith, B.P.3
  • 19
    • 0020624661 scopus 로고
    • Glycogen storage diseases in animals and their potential value as models of human disease
    • Walvoort H C. Glycogen storage diseases in animals and their potential value as models of human disease. J Inher Metab Dis 1993; 6: 3-16.
    • (1993) J Inher Metab Dis , vol.6 , pp. 3-16
    • Walvoort, H.C.1
  • 20
    • 0037889501 scopus 로고
    • Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage
    • Newgard C B, Nakano K, Hwang P K, Fletterick R J. Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage. Proc Natl Acad Sci USA 1986; 83: 8132-8136.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 8132-8136
    • Newgard, C.B.1    Nakano, K.2    Hwang, P.K.3    Fletterick, R.J.4
  • 21
    • 0026544986 scopus 로고
    • The nucleotide sequence of rat liver glycogen phosphorylase cDNA
    • Schiebel K, Pekel E, Mayer D. The nucleotide sequence of rat liver glycogen phosphorylase cDNA. Biochim Biophys Acta 1992; 1130: 349-351.
    • (1992) Biochim Biophys Acta , vol.1130 , pp. 349-351
    • Schiebel, K.1    Pekel, E.2    Mayer, D.3
  • 22
    • 0023860930 scopus 로고
    • Human brain glycogen phosphorylase: Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with human liver and muscle isozimes
    • Newgard C B, Littman D R, van Genderen C, Smith M, Fletterick R J. Human brain glycogen phosphorylase: cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with human liver and muscle isozimes. J Biol Chem 1988; 263: 3850-3857.
    • (1988) J Biol Chem , vol.263 , pp. 3850-3857
    • Newgard, C.B.1    Littman, D.R.2    Van Genderen, C.3    Smith, M.4    Fletterick, R.J.5
  • 23
    • 0024459890 scopus 로고
    • Human brain glycogen phospholyrase: Characterization of fetal cDNA and genomic sequences
    • Gelinas R P, Froman B E, McElroy F, Tait R C, Gorin F A. Human brain glycogen phospholyrase: characterization of fetal cDNA and genomic sequences. Mol Brain Res 1989; 6: 177-185.
    • (1989) Mol Brain Res , vol.6 , pp. 177-185
    • Gelinas, R.P.1    Froman, B.E.2    McElroy, F.3    Tait, R.C.4    Gorin, F.A.5
  • 24
    • 0023023420 scopus 로고
    • The complete amino acid sequence of potato a-glucan phosphorylase
    • Nakano K, Fukui T. The complete amino acid sequence of potato a-glucan phosphorylase. J Biol Chem 1986; 261: 8230-8236.
    • (1986) J Biol Chem , vol.261 , pp. 8230-8236
    • Nakano, K.1    Fukui, T.2
  • 25
    • 0022541494 scopus 로고
    • Convergent and divergent evolution of regulatory sites in eukaryotic phosphorylase
    • Hwang P K, Fletterick R J, Convergent and divergent evolution of regulatory sites in eukaryotic phosphorylase. Nature 1986; 324: 80-84.
    • (1986) Nature , vol.324 , pp. 80-84
    • Hwang, P.K.1    Fletterick, R.J.2
  • 26
    • 0026647516 scopus 로고
    • Purification and crystallization of glycogen phosphorylase from Saccharomyces cerevisiae
    • Rath V L, Hwang P K, Fletterick R J. Purification and crystallization of glycogen phosphorylase from Saccharomyces cerevisiae. J Mol Biol 1992; 225: 1027-1034.
    • (1992) J Mol Biol , vol.225 , pp. 1027-1034
    • Rath, V.L.1    Hwang, P.K.2    Fletterick, R.J.3
  • 27
    • 0024570047 scopus 로고
    • Molecular cloning and sequencing of the glycogen phosphorylase gene from Escherichia coli
    • Choi Y-L, Kawamukai M, Utsumi R, Sakai H, Kamano T. Molecular cloning and sequencing of the glycogen phosphorylase gene from Escherichia coli. FEBS lett 1989; 243: 193-198.
    • (1989) FEBS Lett , vol.243 , pp. 193-198
    • Choi, Y.-L.1    Kawamukai, M.2    Utsumi, R.3    Sakai, H.4    Kamano, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.