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Volumn 7, Issue 8, 1997, Pages 482-486

Challenges in Duchenne muscular dystrophy

Author keywords

Duchenne muscular dystrophy; Dystrophin; Utrophin

Indexed keywords

DYSTROPHIN; UTROPHIN;

EID: 0031456678     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00107-7     Document Type: Article
Times cited : (28)

References (47)
  • 2
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein D., White R.L., Skolnick M., Davis R.W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 32:1980;314-331.
    • (1980) Am J Hum Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 4
    • 0019918301 scopus 로고
    • Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy
    • Murray J.M., Davies K.E., Harper P.S., Meredith L., Mueller C.R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature. 300:1982;69-71.
    • (1982) Nature , vol.300 , pp. 69-71
    • Murray, J.M.1    Davies, K.E.2    Harper, P.S.3    Meredith, L.4    Mueller, C.R.5    Williamson, R.6
  • 6
    • 0019504748 scopus 로고
    • Duchenne Muscular Dystrophy (DMD) in a female with an X/autosome translocation: Further evidence that the DMD locus is at Xp21
    • Jacobs P.A., Hunt P.A., Mayer M., Bart R.D. Duchenne Muscular Dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 33:1981;513-518.
    • (1981) Am J Hum Genet , vol.33 , pp. 513-518
    • Jacobs, P.A.1    Hunt, P.A.2    Mayer, M.3    Bart, R.D.4
  • 7
    • 0021111901 scopus 로고
    • Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome
    • Davies K.E., Pearson P.L., Harper P.S.et al. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucl Acid Res. 11:1983;2303-2312.
    • (1983) Nucl Acid Res , vol.11 , pp. 2303-2312
    • Davies, K.E.1    Pearson, P.L.2    Harper, P.S.3
  • 9
    • 0021028244 scopus 로고
    • A polymorphic DNA marker genetically linked to Huntington's disease
    • Gusella J.F., Wexler N.S., Conneally P.M.et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 306:1983;234-238.
    • (1983) Nature , vol.306 , pp. 234-238
    • Gusella, J.F.1    Wexler, N.S.2    Conneally, P.M.3
  • 10
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5264 microsatellites
    • Dib C., Faure S., Fizames C.et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 380:1996;152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 11
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S., Maestrini E., Rivella S.et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 8:1993;323-327.
    • (1993) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 14
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals
    • Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell. 50:1987;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
  • 15
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman E.P., Brown R.J., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51:1987;919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.J.2    Kunkel, L.M.3
  • 16
    • 0026608273 scopus 로고
    • Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach
    • Coffey A.J., Roberts R.G., Green E.D.et al. Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics. 12:1992;474-484.
    • (1992) Genomics , vol.12 , pp. 474-484
    • Coffey, A.J.1    Roberts, R.G.2    Green, E.D.3
  • 17
    • 0026535028 scopus 로고
    • A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene
    • Monaco A.P., Walker A.P., Millwood I., Larin Z., Lehrach H. A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics. 12:1992;465-473.
    • (1992) Genomics , vol.12 , pp. 465-473
    • Monaco, A.P.1    Walker, A.P.2    Millwood, I.3    Larin, Z.4    Lehrach, H.5
  • 18
    • 0026714803 scopus 로고
    • Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
    • Roberts R.G., Coffey A.J., Bobrow M., Bentley D.R. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics. 13:1992;942-950.
    • (1992) Genomics , vol.13 , pp. 942-950
    • Roberts, R.G.1    Coffey, A.J.2    Bobrow, M.3    Bentley, D.R.4
  • 19
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletion of the DMD locus
    • Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletion of the DMD locus. Genomics. 2:1988;90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 20
    • 0024466501 scopus 로고
    • The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
    • Koenig M., Beggs A.H., Moyer M.et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 45:1989;498-506.
    • (1989) Am J Hum Genet , vol.45 , pp. 498-506
    • Koenig, M.1    Beggs, A.H.2    Moyer, M.3
  • 21
    • 0023241485 scopus 로고
    • Preferential deletion of exons in Duchenne and Becker muscular dystrophies
    • Forrest S.M., Cross G.S., Speer A., Gardner-Medwin D., Davies K.E. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature. 329:1987;638-640.
    • (1987) Nature , vol.329 , pp. 638-640
    • Forrest, S.M.1    Cross, G.S.2    Speer, A.3    Gardner-Medwin, D.4    Davies, K.E.5
  • 22
    • 0023942674 scopus 로고
    • Expression of the murine Duchenne muscular dystrophy gene in muscle and brain
    • Chamberlain J.S., Pearlman J.A., Muzny D.M.et al. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 239:1988;1416-1418.
    • (1988) Science , vol.239 , pp. 1416-1418
    • Chamberlain, J.S.1    Pearlman, J.A.2    Muzny, D.M.3
  • 23
    • 0023906398 scopus 로고
    • Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain
    • Nudel U., Robzyk K., Yaffe D. Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain. Nature. 331:1988;635-638.
    • (1988) Nature , vol.331 , pp. 635-638
    • Nudel, U.1    Robzyk, K.2    Yaffe, D.3
  • 24
    • 0027470203 scopus 로고
    • The structural and functional diversity of dystrophin
    • Ahn A.H., Kunkel L.M. The structural and functional diversity of dystrophin. Nat Genet. 3:1993;283-291.
    • (1993) Nat Genet , vol.3 , pp. 283-291
    • Ahn, A.H.1    Kunkel, L.M.2
  • 27
    • 0028987269 scopus 로고
    • Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: Potentials for protein-protein interactions
    • Blake D.J., Tinsley J.M., Knight A.E., Winder S.J., Kendrick-Jones J., Davies K.E. Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions. Trends Biochem Sci. 20:1995;133-135.
    • (1995) Trends Biochem Sci , vol.20 , pp. 133-135
    • Blake, D.J.1    Tinsley, J.M.2    Knight, A.E.3    Winder, S.J.4    Kendrick-Jones, J.5    Davies, K.E.6
  • 29
    • 0030909575 scopus 로고    scopus 로고
    • Muscular dystrophies and the dystrophin- glycoprotein complex
    • Straub V., Campbell K.P. Muscular dystrophies and the dystrophin- glycoprotein complex. Curr Opin Neurol. 10:1997;168-175.
    • (1997) Curr Opin Neurol , vol.10 , pp. 168-175
    • Straub, V.1    Campbell, K.P.2
  • 30
    • 0024600620 scopus 로고
    • Association of dystrophin and an integral membrane glycoprotein
    • Campbell K.P., Kahl S.D. Association of dystrophin and an integral membrane glycoprotein. Nature. 338:1989;259-262.
    • (1989) Nature , vol.338 , pp. 259-262
    • Campbell, K.P.1    Kahl, S.D.2
  • 31
    • 0025767124 scopus 로고
    • Purification of dystrophin from skeletal muscle
    • Ervasti J.M., Kahl S.D., Campbell K.P. Purification of dystrophin from skeletal muscle. J Biol Chem. 266:1991;9161-9165.
    • (1991) J Biol Chem , vol.266 , pp. 9161-9165
    • Ervasti, J.M.1    Kahl, S.D.2    Campbell, K.P.3
  • 32
    • 0026695175 scopus 로고
    • Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain
    • Suzuki A., Yoshida M., Yamamoto H., Ozawa E. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain. FEBS Lett. 308:1992;54-160.
    • (1992) FEBS Lett , vol.308 , pp. 54-160
    • Suzuki, A.1    Yoshida, M.2    Yamamoto, H.3    Ozawa, E.4
  • 33
    • 0025815479 scopus 로고
    • Membrane organization of the dystrophin-glycoprotein complex
    • Ervasti J.M., Campbell K.P. Membrane organization of the dystrophin-glycoprotein complex. Cell. 66:1991;121-131.
    • (1991) Cell , vol.66 , pp. 121-131
    • Ervasti, J.M.1    Campbell, K.P.2
  • 34
    • 0029875997 scopus 로고    scopus 로고
    • Dystrophin-associated proteins and the muscular dystrophies: A glossary
    • Brown R.H. Jr. Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol. 6:1996;19-24.
    • (1996) Brain Pathol , vol.6 , pp. 19-24
    • Brown R.H., Jr.1
  • 35
    • 0026653859 scopus 로고
    • A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues
    • Lederfein D., Levy Z., Augier N.et al. A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci USA. 89:1992;5346-5350.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5346-5350
    • Lederfein, D.1    Levy, Z.2    Augier, N.3
  • 36
    • 0024538824 scopus 로고
    • An autosomal transcript in skeletal muscle with homology to dystrophin
    • Love D.R., Hill D.F., Dickson G.et al. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 339:1989;55-58.
    • (1989) Nature , vol.339 , pp. 55-58
    • Love, D.R.1    Hill, D.F.2    Dickson, G.3
  • 37
    • 0026621049 scopus 로고
    • Primary structure of dystrophin-related protein
    • Tinsley J.M., Blake D.J., Roche A.et al. Primary structure of dystrophin-related protein. Nature. 360:1992;591-593.
    • (1992) Nature , vol.360 , pp. 591-593
    • Tinsley, J.M.1    Blake, D.J.2    Roche, A.3
  • 38
    • 0027769345 scopus 로고
    • Utrophin: A potential replacement for dystrophin?
    • Tinsley J.M., Davies K.E. Utrophin: a potential replacement for dystrophin? Neuromuscular Disord. 3:1993;537-539.
    • (1993) Neuromuscular Disord , vol.3 , pp. 537-539
    • Tinsley, J.M.1    Davies, K.E.2
  • 39
    • 0028926023 scopus 로고
    • Myoblast-based gene therapies
    • Partridge T.A., Davies K.E. Myoblast-based gene therapies. Br Med Bull. 51:1995;123-137.
    • (1995) Br Med Bull , vol.51 , pp. 123-137
    • Partridge, T.A.1    Davies, K.E.2
  • 41
    • 0028134623 scopus 로고
    • Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy
    • Cox G.A., Sunada Y., Campbell K.P., Chamberlain J.S. Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nat Genet. 8:1994;333-339.
    • (1994) Nat Genet , vol.8 , pp. 333-339
    • Cox, G.A.1    Sunada, Y.2    Campbell, K.P.3    Chamberlain, J.S.4
  • 42
    • 0029906168 scopus 로고    scopus 로고
    • Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
    • Tinsley J.M., Potter A.C., Phelps S.R., Fisher R., Trickett J.I., Davies K.E. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature. 384:1996;349-353.
    • (1996) Nature , vol.384 , pp. 349-353
    • Tinsley, J.M.1    Potter, A.C.2    Phelps, S.R.3    Fisher, R.4    Trickett, J.I.5    Davies, K.E.6
  • 44
    • 8044260252 scopus 로고    scopus 로고
    • Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice
    • Deconinck A.E., Potter A.C., Tinsley J.M.et al. Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. J Cell Biol. 136:1997;883-894.
    • (1997) J Cell Biol , vol.136 , pp. 883-894
    • Deconinck, A.E.1    Potter, A.C.2    Tinsley, J.M.3
  • 45
    • 0031036977 scopus 로고    scopus 로고
    • Subtle neuromuscular defects in utrophin-deficient mice
    • Grady R.M., Merlie J.P., Sanes J.R. Subtle neuromuscular defects in utrophin-deficient mice. J Cell Biol. 136:1997;871-882.
    • (1997) J Cell Biol , vol.136 , pp. 871-882
    • Grady, R.M.1    Merlie, J.P.2    Sanes, J.R.3
  • 46
    • 0030848969 scopus 로고    scopus 로고
    • Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy
    • Deconinck AE, Rafael JA, Skinner JA, et al. Utrophin-dystrophin deficient mice as a model for Duchenne muscular dystrophy. Cell 1997;90:717-727.
    • (1997) Cell , vol.90 , pp. 717-727
    • Deconinck, A.E.1    Rafael, J.A.2    Skinner, J.A.3
  • 47
    • 0030848338 scopus 로고    scopus 로고
    • Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy
    • Grady RM, Teng H, Nichol MC, Cunningham JC, Wilkinson RS, Sanes JR. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 1997;90:729-738.
    • (1997) Cell , vol.90 , pp. 729-738
    • Grady, R.M.1    Teng, H.2    Nichol, M.C.3    Cunningham, J.C.4    Wilkinson, R.S.5    Sanes, J.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.