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Volumn 99, Issue 7, 1997, Pages 1691-1698

RNA metabolism in myotonic dystrophy. Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance

Author keywords

DM kinase; insulin receptor; insulin resistance; myotonic dystrophy; trinucleotide repeat expansion disorder

Indexed keywords

RIBOSOME RNA;

EID: 0030968054     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119332     Document Type: Article
Times cited : (68)

References (48)
  • 2
    • 0000533076 scopus 로고
    • Myotonic Dystrophy
    • A.G. Engel, and C. Franzini-Armstrong, editors. McGraw-Hill Inc., New York
    • Harper, P.S., and R. Rudel. 1994. Myotonic Dystrophy. In Myology. 2nd ed. A.G. Engel, and C. Franzini-Armstrong, editors. McGraw-Hill Inc., New York. 1192-1219.
    • (1994) Myology. 2nd Ed. , pp. 1192-1219
    • Harper, P.S.1    Rudel, R.2
  • 3
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotidc CTG repeat at the 3′ end of the transcript encoded a protein kinase family member
    • Brook, J.D., M.E. Currach, H.G. Harley, A.J. Buckler, D. Church, H. Aburatani, K. Hunter, V.P. Stanton, J. Thirion, T. Hudson, et al. 1992. Molecular basis of myotonic dystrophy: expansion of a trinucleotidc CTG repeat at the 3′ end of the transcript encoded a protein kinase family member. Cell. 68:799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    Currach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.9    Hudson, T.10
  • 10
    • 1842271920 scopus 로고
    • Mvotonic dystrophy: A stutter, stumble, or fall or a kinase?
    • Hoffman, E.P. 1992. Mvotonic dystrophy: a stutter, stumble, or fall or a kinase? Curr. Biol. 6:309-311.
    • (1992) Curr. Biol. , vol.6 , pp. 309-311
    • Hoffman, E.P.1
  • 12
    • 0027372107 scopus 로고
    • Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
    • Carango, P., J.E. Noble, H.G. Marks, and V.L. Funanage. 1993. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. 18:340-348.
    • (1993) Genomics , vol.18 , pp. 340-348
    • Carango, P.1    Noble, J.E.2    Marks, H.G.3    Funanage, V.L.4
  • 14
    • 0027291764 scopus 로고
    • Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
    • Hofmann-Radvanyi, H., C. Lavedan, S.P. Rabes, D. Savoy, C. Duros, K. Johnson, and C. Junien. 1993. Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum. Mol. Genet. 2:1263-1266.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1263-1266
    • Hofmann-Radvanyi, H.1    Lavedan, C.2    Rabes, S.P.3    Savoy, D.4    Duros, C.5    Johnson, K.6    Junien, C.7
  • 17
    • 0023111428 scopus 로고
    • The role of insulin resistance in the pathogenesis of myotonic muscular dystrophy
    • Hudson, A.J., M.W. Huff, C.G. Wright, M.M. Silver, T.C.Y. Lo, and D. Banerjee. 1987. The role of insulin resistance in the pathogenesis of myotonic muscular dystrophy. Brain. 110:469-488.
    • (1987) Brain , vol.110 , pp. 469-488
    • Hudson, A.J.1    Huff, M.W.2    Wright, C.G.3    Silver, M.M.4    Lo, T.C.Y.5    Banerjee, D.6
  • 18
    • 0023200053 scopus 로고
    • Lack of rapid enhancement of insulin action after oral glucose challenge in myotonic dystrophy
    • Moxley, R.T., W.J. Kingston, R.C. Griggs, and J.N. Livingston. 1987. Lack of rapid enhancement of insulin action after oral glucose challenge in myotonic dystrophy. Diabetes. 36:693-701.
    • (1987) Diabetes , vol.36 , pp. 693-701
    • Moxley, R.T.1    Kingston, W.J.2    Griggs, R.C.3    Livingston, J.N.4
  • 19
    • 0024576620 scopus 로고
    • Environmental influence on altered receptor function in a genetic disease: Insulin and glucose affect insulin receptors in myotonic dystrophy
    • Perurena, O.H., and B.W. Fesloff. 1989. Environmental influence on altered receptor function in a genetic disease: insulin and glucose affect insulin receptors in myotonic dystrophy. J. Neurol. Svi. 89:15-25.
    • (1989) J. Neurol. Svi. , vol.89 , pp. 15-25
    • Perurena, O.H.1    Fesloff, B.W.2
  • 20
    • 0024997763 scopus 로고
    • Abnormal regulation of intermediary metabolism after oral glucose ingestion in myotonic dystrophy
    • Krentz, A.J., N.H. Coles, A.C. Williams, and M. Nattrass. 1990. Abnormal regulation of intermediary metabolism after oral glucose ingestion in myotonic dystrophy. Metab. Clin. Exp. 39:938-942.
    • (1990) Metab. Clin. Exp. , vol.39 , pp. 938-942
    • Krentz, A.J.1    Coles, N.H.2    Williams, A.C.3    Nattrass, M.4
  • 24
    • 0026515315 scopus 로고
    • Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q
    • Wang, J., C.V. Rojas, J. Zhou, L.S. Shwartz, H. Nicholas, and E.P. Hoffman. 1992. Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. Biochem. Biophys. Res. Commun. 182:794-801.
    • (1992) Biochem. Biophys. Res. Commun. , vol.182 , pp. 794-801
    • Wang, J.1    Rojas, C.V.2    Zhou, J.3    Shwartz, L.S.4    Nicholas, H.5    Hoffman, E.P.6
  • 26
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig, M., E.P. Hoffman, C.J. Bertelson, A.P. Monaco, C. Feener, and L.M. Kunkel. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 27
  • 28
    • 0021685289 scopus 로고
    • The human transferrin receptor gene: Genomic organization, and the complete primary structure of the receptor deduced from a cDNA sequence
    • McClelland A., L.C. Kuehn, and F.H. Ruddle. 1984. The human transferrin receptor gene: genomic organization, and the complete primary structure of the receptor deduced from a cDNA sequence. Cell. 39:267-274.
    • (1984) Cell , vol.39 , pp. 267-274
    • McClelland, A.1    Kuehn, L.C.2    Ruddle, F.H.3
  • 29
    • 0026629939 scopus 로고
    • Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy
    • Schwartz, L.S., J. Tarleton, B. Popovich, W. Seltzer, and E.P. Hoffman. 1992. Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am. J. Hum. Genet. 51:721-729.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 721-729
    • Schwartz, L.S.1    Tarleton, J.2    Popovich, B.3    Seltzer, W.4    Hoffman, E.P.5
  • 30
    • 0028229055 scopus 로고
    • Pathophysiology of sodium channelopathies: Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction
    • Zhou, J.H., and E.P. Hoffman. 1994. Pathophysiology of sodium channelopathies: Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction. J. Biol. Chem. 269:18563-18571.
    • (1994) J. Biol. Chem. , vol.269 , pp. 18563-18571
    • Zhou, J.H.1    Hoffman, E.P.2
  • 32
    • 0022367618 scopus 로고
    • Slow and fast myosin heavy chain content defines three types of myotubes in early muscle cell cultures
    • Miller, J.B., M.T. Crow, and F.E. Stockdale. 1985. Slow and fast myosin heavy chain content defines three types of myotubes in early muscle cell cultures. J. Cell Biol. 101:1643-1650.
    • (1985) J. Cell Biol. , vol.101 , pp. 1643-1650
    • Miller, J.B.1    Crow, M.T.2    Stockdale, F.E.3
  • 33
  • 34
    • 0028797069 scopus 로고
    • Brefeldin A inhibits insulin-dependent receptor redistribution in HIRcB cells
    • Shome, K., X.Q. Xu, and G. Romero. 1995. Brefeldin A inhibits insulin-dependent receptor redistribution in HIRcB cells. FEBS Lett. 357:109-114.
    • (1995) FEBS Lett. , vol.357 , pp. 109-114
    • Shome, K.1    Xu, X.Q.2    Romero, G.3
  • 35
    • 0029009702 scopus 로고
    • IGF-I and insulin receptors in bovine skeletal muscle: Comparisons of different developmental ages, two different genotypes, and various individual muscles
    • Boge, A., H. Sauerwein, and H.H. Meyer. 1995. IGF-I and insulin receptors in bovine skeletal muscle: comparisons of different developmental ages, two different genotypes, and various individual muscles. Exp. Clin. Endocrinol. Diabetes. 103:99-104.
    • (1995) Exp. Clin. Endocrinol. Diabetes , vol.103 , pp. 99-104
    • Boge, A.1    Sauerwein, H.2    Meyer, H.H.3
  • 39
    • 0029059218 scopus 로고
    • Triplet expansion in myotonic dystrophy alters the adjacent chromatin structure
    • Otten, A.D., and S.J. Tapscott. 1995. Triplet expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc. Natl. Acad. Sci. USA. 92: 5465-5469.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 5465-5469
    • Otten, A.D.1    Tapscott, S.J.2
  • 40
    • 0027941198 scopus 로고
    • Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
    • Wang, Y.H., A. Sorour, S. Kang, R.D. Wells, and J.D. Griffith. 1994. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science (Wash. DC). 265:669-671.
    • (1994) Science (Wash. DC) , vol.265 , pp. 669-671
    • Wang, Y.H.1    Sorour, A.2    Kang, S.3    Wells, R.D.4    Griffith, J.D.5
  • 41
    • 0028932050 scopus 로고
    • Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
    • Wang, Y.H., and J.D. Griffith. 1994. Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics. 25:570-573.
    • (1994) Genomics , vol.25 , pp. 570-573
    • Wang, Y.H.1    Griffith, J.D.2
  • 42
    • 0029038947 scopus 로고
    • Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus
    • Jansen, G., D. Bachner, M. Coerwinkel, N. Wormskamp, H. Hameister, and B. Wieringa. 1995. Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum. Mol. Genet. 4:843-852.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 843-852
    • Jansen, G.1    Bachner, D.2    Coerwinkel, M.3    Wormskamp, N.4    Hameister, H.5    Wieringa, B.6
  • 45
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, L.K., M. McCurrach, M. Schalling, D. Housman, and R.H. Singer. 1995. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 128:996-1002.
    • (1995) J. Cell Biol. , vol.128 , pp. 996-1002
    • Taneja, L.K.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 47
    • 0030043709 scopus 로고    scopus 로고
    • Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy
    • Timchenko, L.T., N.A. Timchenko, C.T. Caskey, and R. Roberts. 1996. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum. Mol. Genet. 5:115-121.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 115-121
    • Timchenko, L.T.1    Timchenko, N.A.2    Caskey, C.T.3    Roberts, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.