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Volumn 1588, Issue 1, 2002, Pages 33-40

Telethonin protein expression in neuromuscular disorders

Author keywords

Limb girdle muscular dystrophy; Limb girdle muscular dystrophy type 2G; Muscular dystrophy; Neuromuscular disorder; Protein study; Telethonin

Indexed keywords

ALPHA ACTININ; CALPAIN; CONNECTIN; DYSFERLIN; DYSTROPHIN; MUSCLE PROTEIN; MYOTILIN; SARCOGLYCAN; TELETHONIN; UNCLASSIFIED DRUG;

EID: 18644362379     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(02)00113-8     Document Type: Article
Times cited : (49)

References (51)
  • 1
    • 0003352842 scopus 로고
    • Limb girdle syndromes
    • A.G. Engel, & B.Q. Banker. USA: Mc Graw-Hill
    • Shields R.W. Limb girdle syndromes. Engel A.G., Banker B.Q. Myology. vol. II:1986;Mc Graw-Hill, USA.
    • (1986) Myology , vol.2
    • Shields, R.W.1
  • 2
    • 0028835527 scopus 로고
    • Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC workshop on limb-girdle muscular dystrophies
    • Bushby K.M.D., Beckmann J.S. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC workshop on limb-girdle muscular dystrophies. Neuromuscul. Disord. 5:1995;71-74.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 71-74
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 3
    • 0344759163 scopus 로고    scopus 로고
    • Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
    • Salmikangas P., Mykkanen O.M., Gronholm M., Heiska L., Kere J., Carpen O. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum. Mol. Genet. 8:1999;1329-1336.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1329-1336
    • Salmikangas, P.1    Mykkanen, O.M.2    Gronholm, M.3    Heiska, L.4    Kere, J.5    Carpen, O.6
  • 8
    • 0032231939 scopus 로고    scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-33: Evidence for another limb-girdle muscular dystrophy locus
    • Weiler T., Greenberg C.R., Zelinski T., Nylen E., Coghlan G., Crumley M.J., Fujiwara T.M., Morgan K., Wrogemann K. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-33: evidence for another limb-girdle muscular dystrophy locus. Am. J. Hum. Genet. 63:1998;140-147.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 140-147
    • Weiler, T.1    Greenberg, C.R.2    Zelinski, T.3    Nylen, E.4    Coghlan, G.5    Crumley, M.J.6    Fujiwara, T.M.7    Morgan, K.8    Wrogemann, K.9
  • 9
    • 0034214277 scopus 로고    scopus 로고
    • A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
    • Driss A., Amouri R., Ben Hamida C., Souilem S., Gouider-Khouja N., Ben Hamida M., Hentati F. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul. Disord. 10:2000;240-246.
    • (2000) Neuromuscul. Disord. , vol.10 , pp. 240-246
    • Driss, A.1    Amouri, R.2    Ben Hamida, C.3    Souilem, S.4    Gouider-Khouja, N.5    Ben Hamida, M.6    Hentati, F.7
  • 10
    • 0025272250 scopus 로고
    • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
    • Ervasti J.M., Ohlendieck K., Kahl S.D., Gaver M.G., Campbell K.P. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature. 345:1990;315-319.
    • (1990) Nature , vol.345 , pp. 315-319
    • Ervasti, J.M.1    Ohlendieck, K.2    Kahl, S.D.3    Gaver, M.G.4    Campbell, K.P.5
  • 11
    • 0025242185 scopus 로고
    • Glycoprotein complex anchoring dystrophin to sarcolemma
    • Yoshida M., Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. (Tokyo). 108:1990;748-752.
    • (1990) J. Biochem. (Tokyo) , vol.108 , pp. 748-752
    • Yoshida, M.1    Ozawa, E.2
  • 12
    • 0026757138 scopus 로고
    • Deficiency of the 50 kDa dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K., Tomé F.M.S., Collin H., Azibi K., Chaouch M., Kaplan J.C., Fardeau M., Campbell K.P. Deficiency of the 50 kDa dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. 359:1992;320-322.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K.1    Tomé, F.M.S.2    Collin, H.3    Azibi, K.4    Chaouch, M.5    Kaplan, J.C.6    Fardeau, M.7    Campbell, K.P.8
  • 16
    • 0028971221 scopus 로고
    • β-sarcoglycan (43 DAG): Characterization and involvement in a recesive form of limb-girdle muscular dystrophy linked to chromosome 4q12
    • Lim L.E., Duclos F., Broux O., Bourg N., Sunada Y., Allamand V., Meyer J., Richard I., Moomaw C., Slaughter C.et al. β-sarcoglycan (43 DAG): characterization and involvement in a recesive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat. Genet. 11:1995;257-265.
    • (1995) Nat. Genet. , vol.11 , pp. 257-265
    • Lim, L.E.1    Duclos, F.2    Broux, O.3    Bourg, N.4    Sunada, Y.5    Allamand, V.6    Meyer, J.7    Richard, I.8    Moomaw, C.9    Slaughter, C.10
  • 19
    • 0030008373 scopus 로고    scopus 로고
    • Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR-LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
    • Passos-Bueno M.R., Moreira E.S., Vainzof M., Marie S., Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR-LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum. Mol. Genet. 5:1996;815-820.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 815-820
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3    Marie, S.4    Zatz, M.5
  • 22
    • 0030765309 scopus 로고    scopus 로고
    • The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
    • Moreira E.S., Vainzof M., Sertié A.L., Zatz M. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am. J. Hum. Genet. 61:1997;151-159.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 151-159
    • Moreira, E.S.1    Vainzof, M.2    Sertié, A.L.3    Zatz, M.4
  • 31
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn R.D., Campbell K.P. Molecular basis of muscular dystrophies. Muscle Nerve. 23:2000;1456-1471.
    • (2000) Muscle Nerve , vol.23 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 37
    • 0026786782 scopus 로고
    • Cloning and characterization of two human skeletal muscle α-actinin genes located on chromosomes 1 and 11
    • Beggs A.H., Byers T.J., Knoll J.H.M., Boyce F.M., Bruys G.A.P., Kunkel L.M. Cloning and characterization of two human skeletal muscle α-actinin genes located on chromosomes 1 and 11. J. Biol. Chem. 267:1992;9281-9288.
    • (1992) J. Biol. Chem. , vol.267 , pp. 9281-9288
    • Beggs, A.H.1    Byers, T.J.2    Knoll, J.H.M.3    Boyce, F.M.4    Bruys, G.A.P.5    Kunkel, L.M.6
  • 43
    • 0025979087 scopus 로고
    • Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein
    • Vainzof M., Zubrzycka-Gaarn E.E., Rapaport D., Passos-Bueno M.R., Pavanello R.C., Pavanello-Filho I., Zatz M. Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein. J. Neurol. Sci. 101:1991;141-147.
    • (1991) J. Neurol. Sci. , vol.101 , pp. 141-147
    • Vainzof, M.1    Zubrzycka-Gaarn, E.E.2    Rapaport, D.3    Passos-Bueno, M.R.4    Pavanello, R.C.5    Pavanello-Filho, I.6    Zatz, M.7
  • 44
    • 0026353824 scopus 로고
    • Dystrophin: A sensitive and reliable immunochemical assay in tissue and cell culture homogenates
    • Ho-Kim M.A., Bedard A., Vincent M., Rogers P.A. Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates. Biochem. Biophys. Res. Commun. 181:1991;1164-1172.
    • (1991) Biochem. Biophys. Res. Commun. , vol.181 , pp. 1164-1172
    • Ho-Kim, M.A.1    Bedard, A.2    Vincent, M.3    Rogers, P.A.4
  • 45
    • 0032557642 scopus 로고    scopus 로고
    • Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
    • Mues A., Van der Vem P.F.M., Young P., Furst D.O., Gautel M. Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin. FEBS Lett. 428:1998;111-114.
    • (1998) FEBS Lett. , vol.428 , pp. 111-114
    • Mues, A.1    Van der Vem, P.F.M.2    Young, P.3    Furst, D.O.4    Gautel, M.5
  • 47
    • 0033823157 scopus 로고    scopus 로고
    • Human skeletal muscle fibres: Molecular and functional diversity
    • Bottinelli R., Reggiani C. Human skeletal muscle fibres: molecular and functional diversity. Prog. Biophys. Mol. Biol. 73:2000;195-262.
    • (2000) Prog. Biophys. Mol. Biol. , vol.73 , pp. 195-262
    • Bottinelli, R.1    Reggiani, C.2
  • 50
    • 0033590996 scopus 로고    scopus 로고
    • The novel sarecomeric protein telethonin exhibits developmental and functional regulation
    • Mason P., Bayol S., Loughna P.T. The novel sarecomeric protein telethonin exhibits developmental and functional regulation. Biochem. Biophys. Res. Commun. 257:1999;699-703.
    • (1999) Biochem. Biophys. Res. Commun. , vol.257 , pp. 699-703
    • Mason, P.1    Bayol, S.2    Loughna, P.T.3
  • 51
    • 0033793971 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy: One gene, different phenotypes, one phenotype, different genes
    • Zatz M., Vainzof M., Passos-Bueno M.R. Limb-girdle muscular dystrophy: one gene, different phenotypes, one phenotype, different genes. Curr. Opin. Neurol. 13:2000;511-517.
    • (2000) Curr. Opin. Neurol. , vol.13 , pp. 511-517
    • Zatz, M.1    Vainzof, M.2    Passos-Bueno, M.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.