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Volumn 13, Issue 6, 2007, Pages 339-351

Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2

Author keywords

Expression analysis; Ion channels; Myotonic dystrophy; Pathogenesis; Splicing

Indexed keywords

BINDING PROTEIN; CALCIUM; CHLORIDE CHANNEL; INSULIN RECEPTOR; MESSENGER RNA; POTASSIUM; PROTEIN CUGBP1; PROTEIN MBNL1; PROTEIN MTMR1; TRANSCRIPTION FACTOR SP1; UNCLASSIFIED DRUG;

EID: 34548072824     PISSN: 10522166     EISSN: None     Source Type: Journal    
DOI: 10.3727/000000006781510705     Document Type: Article
Times cited : (40)

References (61)
  • 1
    • 0034671216 scopus 로고    scopus 로고
    • A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro
    • Alekov, A.; Rahman, M. M.; Mitrovic, N.; Lehmann-Horn, F.; Lerche, H. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J. Physiol. 529:533-539; 2000.
    • (2000) J. Physiol , vol.529 , pp. 533-539
    • Alekov, A.1    Rahman, M.M.2    Mitrovic, N.3    Lehmann-Horn, F.4    Lerche, H.5
  • 2
    • 0029985323 scopus 로고    scopus 로고
    • Ion transport in human skeletal muscle cells: Disturbances in myotonic dystrophy and Brody's disease
    • Benders, A. A. G. M.; Wevers, R. A.; Veerkamp, J. H. Ion transport in human skeletal muscle cells: Disturbances in myotonic dystrophy and Brody's disease. Acta Physiol. Scand. 156:355-367; 1996.
    • (1996) Acta Physiol. Scand , vol.156 , pp. 355-367
    • Benders, A.A.G.M.1    Wevers, R.A.2    Veerkamp, J.H.3
  • 4
    • 4344666094 scopus 로고    scopus 로고
    • A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
    • Bonifazi, E.; Vallo, L.; Giardina, E.; Botta, A.; Novelli, G. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn. Mol. Pathol. 13:164-166; 2004.
    • (2004) Diagn. Mol. Pathol , vol.13 , pp. 164-166
    • Bonifazi, E.1    Vallo, L.2    Giardina, E.3    Botta, A.4    Novelli, G.5
  • 6
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J. D.; McCurrach, M. E.; Harley, H. G.; Buckler, A. J.; Church, D.; Aburatani, H.; Hunter, K.; Stanton, V. P.; Thirion, J. P.; Hudson, T.; et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808; 1992.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, 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.P.9    Hudson, T.10
  • 8
    • 0027372107 scopus 로고
    • Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
    • Carango, P.; Noble, J. E.; Marks, H. G.; Funanage, V. L. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 18:340-348; 1993.
    • (1993) Genomics , vol.18 , pp. 340-348
    • Carango, P.1    Noble, J.E.2    Marks, H.G.3    Funanage, V.L.4
  • 9
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet, B. N.; Savkur, R. S.; Singh, G.; Philips, A. V.; Grice, E. A.; Cooper, T. A. Loss of the muscle-specific chloride channel in type1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell 10:45-53; 2002.
    • (2002) Mol. Cell , vol.10 , pp. 45-53
    • Charlet, B.N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 10
    • 0032995065 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    • Day, J. W.; Roelefs, R.; Leroy, B.; Pech, I.; Benzow, K.; Ranum, L. P. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul. Disord. 9:19-27; 1999.
    • (1999) Neuromuscul. Disord , vol.9 , pp. 19-27
    • Day, J.W.1    Roelefs, R.2    Leroy, B.3    Pech, I.4    Benzow, K.5    Ranum, L.P.6
  • 11
    • 15044354661 scopus 로고    scopus 로고
    • RNA pathogenesis of the myotonic dystrophies
    • Day, J. W.; Ranum, L. P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 15:5-16; 2005.
    • (2005) Neuromuscul. Disord , vol.15 , pp. 5-16
    • Day, J.W.1    Ranum, L.P.2
  • 12
    • 0020076973 scopus 로고
    • Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment
    • Desnuelle, C.; Lombet, A.; Serratrice, G.; Lazdunski, M. Sodium channel and sodium pump in normal and pathological muscles from patients with myotonic muscular dystrophy and lower motor neuron impairment. J. Clin. Invest. 69:358-367; 1982.
    • (1982) J. Clin. Invest , vol.69 , pp. 358-367
    • Desnuelle, C.1    Lombet, A.2    Serratrice, G.3    Lazdunski, M.4
  • 14
    • 0028104051 scopus 로고
    • Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
    • Dunne, P. W.; Walch, E. T.; Epstein, H. F. Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry 33:10809-10814; 1994.
    • (1994) Biochemistry , vol.33 , pp. 10809-10814
    • Dunne, P.W.1    Walch, E.T.2    Epstein, H.F.3
  • 15
    • 0346373752 scopus 로고    scopus 로고
    • RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
    • Ebralidze, A.; Wang, Y.; Petkova, V.; Ebralidse, R.; Junhans, R. P. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303:383-387; 2004.
    • (2004) Science , vol.303 , pp. 383-387
    • Ebralidze, A.1    Wang, Y.2    Petkova, V.3    Ebralidse, R.4    Junhans, R.P.5
  • 16
    • 0024430983 scopus 로고
    • Intracellular elemental composition of single muscle fibres in muscular dystrophy and dystrophia myotonica
    • Edstrom, L.; Wroblewski, R. Intracellular elemental composition of single muscle fibres in muscular dystrophy and dystrophia myotonica. Acta Neurol. Scand. 80:419-424; 1989.
    • (1989) Acta Neurol. Scand , vol.80 , pp. 419-424
    • Edstrom, L.1    Wroblewski, R.2
  • 17
    • 0035394801 scopus 로고    scopus 로고
    • In vivo colocalisation of MBNL protein with DMPK expanded-repeat transcripts
    • Fardaei, M.; Larkin, K.; Brook, J. D.; Hamshere, M. G. In vivo colocalisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res. 29:2766-2771; 2001.
    • (2001) Nucleic Acids Res , vol.29 , pp. 2766-2771
    • Fardaei, M.1    Larkin, K.2    Brook, J.D.3    Hamshere, M.G.4
  • 18
    • 0036537492 scopus 로고    scopus 로고
    • Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1and DM2 cells
    • Fardaei, M.; Rogers, M. T.; Thorpe, H. M.; Larkin, K.; Hamshere, M. G.; Harper, P. S.; Brook, J. D. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1and DM2 cells. Hum. Mol. Genet. 11:805-814; 2002.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 805-814
    • Fardaei, M.1    Rogers, M.T.2    Thorpe, H.M.3    Larkin, K.4    Hamshere, M.G.5    Harper, P.S.6    Brook, J.D.7
  • 19
    • 0025314128 scopus 로고
    • - conductance in resealed muscle fibre segments from patients with myotonic dystrophy
    • - conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J. Physiol. 425:391-405; 1990.
    • (1990) J. Physiol , vol.425 , pp. 391-405
    • Franke, C.1    Hatt, H.2    Iaizzo, P.A.3    Lehmann-Horn, F.4
  • 22
    • 0031783721 scopus 로고    scopus 로고
    • A single polymerase chain reaction protocol for detecting normal and expanded alleles in myotonic dystrophy
    • Gennarelli, M.; Pavoni, M.; Amicucci, P.; Novelli, G.; Dallapiccola, B. A single polymerase chain reaction protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn. Mol. Pathol. 7:135-137; 1998.
    • (1998) Diagn. Mol. Pathol , vol.7 , pp. 135-137
    • Gennarelli, M.1    Pavoni, M.2    Amicucci, P.3    Novelli, G.4    Dallapiccola, B.5
  • 23
    • 0018359721 scopus 로고
    • Electrophysiologic properties of intercostal muscle fibers in human neuromuscular diseases
    • Gruener, R.; Stern, L. Z.; Markovitz, D.; Gerdes, C. Electrophysiologic properties of intercostal muscle fibers in human neuromuscular diseases. Muscle Nerve 2:165-172; 1979.
    • (1979) Muscle Nerve , vol.2 , pp. 165-172
    • Gruener, R.1    Stern, L.Z.2    Markovitz, D.3    Gerdes, C.4
  • 25
    • 20444452898 scopus 로고    scopus 로고
    • Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
    • Ho, T. H.; Bundman, D.; Armstrong, D. L.; Cooper, T. A. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum. Mol. Genet. 14:1539-1547; 2005.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 1539-1547
    • Ho, T.H.1    Bundman, D.2    Armstrong, D.L.3    Cooper, T.A.4
  • 27
    • 11044233708 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
    • Jiang, H.; Mankodi, A.; Swanson, M. S.; Moxley, R. T.; Thornton, C. A. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum. Mol. Genet. 13:3079-3088; 2004.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 3079-3088
    • Jiang, H.1    Mankodi, A.2    Swanson, M.S.3    Moxley, R.T.4    Thornton, C.A.5
  • 30
    • 0034624280 scopus 로고    scopus 로고
    • The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy
    • Kimura, T.; Takahashi, M. P.; Okuda, Y.; Kaido, M.; Fujimura, H.; Yanagihara, T.; Sakoda, S. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy. Neurosci. Lett. 295:93-96; 2000.
    • (2000) Neurosci. Lett , vol.295 , pp. 93-96
    • Kimura, T.1    Takahashi, M.P.2    Okuda, Y.3    Kaido, M.4    Fujimura, H.5    Yanagihara, T.6    Sakoda, S.7
  • 32
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • Ladd, A. N.; Charlet, N.; Cooper, T. A. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell. Biol. 21:1285-1296; 2001.
    • (2001) Mol. Cell. Biol , vol.21 , pp. 1285-1296
    • Ladd, A.N.1    Charlet, N.2    Cooper, T.A.3
  • 35
    • 33845915511 scopus 로고    scopus 로고
    • Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy
    • Lueck, J. D.; Mankodi, A.; Swanson, M. S.; Thornton, C. A.; Dirksen, R. T. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J. Gen. Physiol. 129:79-94; 2007.
    • (2007) J. Gen. Physiol , vol.129 , pp. 79-94
    • Lueck, J.D.1    Mankodi, A.2    Swanson, M.S.3    Thornton, C.A.4    Dirksen, R.T.5
  • 36
    • 0033873930 scopus 로고    scopus 로고
    • Maduke, M.; Miller, C.; Mindell, J. A. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 29:411-438; 2000.
    • Maduke, M.; Miller, C.; Mindell, J. A. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions. Annu. Rev. Biophys. Biomol. Struct. 29:411-438; 2000.
  • 40
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi, A.; Takahashi, M. P.; Jiang, H.; Beck, C. L.; Bowers, W. J.; Moxley, R. T.; Cannon, S. C.; Thornton, C. A. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10:35-44; 2002.
    • (2002) Mol. Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3    Beck, C.L.4    Bowers, W.J.5    Moxley, R.T.6    Cannon, S.C.7    Thornton, C.A.8
  • 41
    • 33744762160 scopus 로고    scopus 로고
    • DM2 intronic expansions: Evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
    • Margolis, J. M.; Schoser, B. G.; Moseley, M. L.; Day, J. W.; Ranum, L. P. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum. Mol. Genet. 15:1808-1815; 2006.
    • (2006) Hum. Mol. Genet , vol.15 , pp. 1808-1815
    • Margolis, J.M.1    Schoser, B.G.2    Moseley, M.L.3    Day, J.W.4    Ranum, L.P.5
  • 42
    • 8744295714 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 and related myotonic disorders
    • Meola, G.; Moxley, III, R. T. Myotonic dystrophy type 2 and related myotonic disorders. J. Neurol. 251:1173-1182; 2004.
    • (2004) J. Neurol , vol.251 , pp. 1173-1182
    • Meola, G.1    Moxley III, R.T.2
  • 44
    • 0032992140 scopus 로고    scopus 로고
    • Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions
    • Mussini, I.; Donatella, B.; Marin, O.; Furlan, S.; Salvatori, S. Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions. J. Histochem. Cytochem. 47:383-392; 1999.
    • (1999) J. Histochem. Cytochem , vol.47 , pp. 383-392
    • Mussini, I.1    Donatella, B.2    Marin, O.3    Furlan, S.4    Salvatori, S.5
  • 45
    • 0034642233 scopus 로고    scopus 로고
    • dystrophic variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene
    • Nagamitsu, S.; Matsuura, T.; Khajavi, M.; Armstrong, R.; Gooch, C.; Harati, Y.; Ashizawa, T. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 55:1697-1703; 2000.
    • (2000) Neurology , vol.55 , pp. 1697-1703
    • Nagamitsu, S.1    Matsuura, T.2    Khajavi, M.3    Armstrong, R.4    Gooch, C.5    Harati, Y.6    Ashizawa, T.A.7
  • 48
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips, A. V.; Timchenko, L. T.; Cooper, T. A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741; 1998.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 50
    • 4444299702 scopus 로고    scopus 로고
    • Pathogenic RNA repeats: An expanding role in genetic disease
    • Ranum, L. P.; Day, J. W. Pathogenic RNA repeats: An expanding role in genetic disease. Trends Genet. 20:506-512; 2004.
    • (2004) Trends Genet , vol.20 , pp. 506-512
    • Ranum, L.P.1    Day, J.W.2
  • 51
    • 0024324798 scopus 로고
    • Identification of a zinc finger protein that binds to the sterol regulatory element
    • Rajavashisth, T. B.; Taylor, A. K.; Andalibi, A.; Svenson, K. L.; Lusis, A. J. Identification of a zinc finger protein that binds to the sterol regulatory element. Science 245:640-643; 1989.
    • (1989) Science , vol.245 , pp. 640-643
    • Rajavashisth, T.B.1    Taylor, A.K.2    Andalibi, A.3    Svenson, K.L.4    Lusis, A.J.5
  • 52
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker, K.; Koch, M. C.; Lehmann-Horn, F.; Pongratz, D.; Otto, M.; Heine, R.; Moxley, III, R. T. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452; 1994.
    • (1994) Neurology , vol.44 , pp. 1448-1452
    • Ricker, K.1    Koch, M.C.2    Lehmann-Horn, F.3    Pongratz, D.4    Otto, M.5    Heine, R.6    Moxley III, R.T.7
  • 53
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur, R. S.; Philips, A. V.; Cooper, T. A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29:40-47; 2001.
    • (2001) Nat. Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 55
    • 0034992228 scopus 로고    scopus 로고
    • Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes
    • Schneider, C.; Wessig, C.; Muller, C. R.; Brechtelsbauer, D.; Grimm, T. Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes. Neuromuscul. Disord. 11:485-488; 2001.
    • (2001) Neuromuscul. Disord , vol.11 , pp. 485-488
    • Schneider, C.1    Wessig, C.2    Muller, C.R.3    Brechtelsbauer, D.4    Grimm, T.5
  • 59
    • 1842529234 scopus 로고    scopus 로고
    • Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
    • Timchenko, N. A.; Patel, R.; Iakova, P.; Cai, Z. J.; Quan, L.; Timchenko, L. T. Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J. Biol. Chem. 279:13129-13139; 2004.
    • (2004) J. Biol. Chem , vol.279 , pp. 13129-13139
    • Timchenko, N.A.1    Patel, R.2    Iakova, P.3    Cai, Z.J.4    Quan, L.5    Timchenko, L.T.6
  • 61
    • 0034570142 scopus 로고    scopus 로고
    • 2+ release from internal stores in cardiac and skeletal muscles
    • 2+ release from internal stores in cardiac and skeletal muscles. Acta Biochim. Pol. 47:705-723; 2000.
    • (2000) Acta Biochim. Pol , vol.47 , pp. 705-723
    • Wrzosek, A.1


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