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Volumn 6, Issue 6, 1996, Pages 463-465

From adhalinopathies to alpha-sarcoglycanopathies: An overview

Author keywords

[No Author keywords available]

Indexed keywords

ADHALIN; ALPHA SARCOGLYCAN; BETA SARCOGLYCAN; DYSTROPHIN; UNCLASSIFIED DRUG;

EID: 19244373991     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00394-X     Document Type: Conference Paper
Times cited : (18)

References (26)
  • 1
    • 0028047235 scopus 로고
    • Dystrophin-glycoprotein complex: Its role in the molecular pathogenesis of muscular dystrophies
    • 1. Matsumura K, Campbell K P. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 1994; 17: 2-15.
    • (1994) Muscle Nerve , vol.17 , pp. 2-15
    • Matsumura, K.1    Campbell, K.P.2
  • 2
    • 0029089582 scopus 로고
    • Dystrophin-associated proteins in muscular dystrophy
    • 2. Ozawa E, Yoshida M, Suzuki A et al. Dystrophin-associated proteins in muscular dystrophy. Hum Molec Genet 1995; 4: 11711-11716.
    • (1995) Hum Molec Genet , vol.4 , pp. 11711-11716
    • Ozawa, E.1    Yoshida, M.2    Suzuki, A.3
  • 3
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
    • 3. Campbell K P. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995; 80: 675-679.
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 4
    • 0027361264 scopus 로고
    • Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)
    • 4. Roberds S L, Anderson R D, Ibraghimov-Beskrovnaya O et al. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 1993; 268: 23739-23742.
    • (1993) J Biol Chem , vol.268 , pp. 23739-23742
    • Roberds, S.L.1    Anderson, R.D.2    Ibraghimov-Beskrovnaya, O.3
  • 5
    • 0028153581 scopus 로고
    • Expression of dystrophin-associated protein 35DAG (A4) and 50 DAG (A2) is confined to striated muscles
    • 5. Yamamoto H, Mizuno Y, Hayashi K et al. Expression of dystrophin-associated protein 35DAG (A4) and 50 DAG (A2) is confined to striated muscles. J Biochem 1994; 115: 162-167.
    • (1994) J Biochem , vol.115 , pp. 162-167
    • Yamamoto, H.1    Mizuno, Y.2    Hayashi, K.3
  • 6
    • 0026757138 scopus 로고
    • Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • 6. Matsumura K, Tomé F M S, Collin H et al. Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-322.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K.1    Tomé, F.M.S.2    Collin, H.3
  • 7
    • 0027484305 scopus 로고
    • Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries
    • 7. Fardeau M, Matsumura K, Tomé F M S et al. Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. C R Acad Sci Paris, Sciences de la vie/Life sciences 1993; 316: 799-804.
    • (1993) C R Acad Sci Paris, Sciences de la Vie/Life Sciences , vol.316 , pp. 799-804
    • Fardeau, M.1    Matsumura, K.2    Tomé, F.M.S.3
  • 8
    • 0020606260 scopus 로고
    • Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
    • 8. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-480.
    • (1983) Muscle Nerve , vol.6 , pp. 469-480
    • Ben Hamida, M.1    Fardeau, M.2    Attia, N.3
  • 9
    • 0020664151 scopus 로고
    • Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred
    • 9. Salih M A M, Omer M I A, Bayoumi R A et al. Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred. Dev Med Child Neurol 1983; 25: 43-52.
    • (1983) Dev Med Child Neurol , vol.25 , pp. 43-52
    • Salih, M.A.M.1    Omer, M.I.A.2    Bayoumi, R.A.3
  • 10
    • 0027171297 scopus 로고
    • Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
    • 10. Azibi K, Bachner L, Beckmann J S et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Molec Genet 1993; 2: 1423-1428.
    • (1993) Hum Molec Genet , vol.2 , pp. 1423-1428
    • Azibi, K.1    Bachner, L.2    Beckmann, J.S.3
  • 11
    • 0028354947 scopus 로고
    • Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy (SCARMD) in Morocco indicates genetic homogeneity of the disease in North-Africa
    • 11. El Kerch F, Sefiani A, Azibi K et al. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy (SCARMD) in Morocco indicates genetic homogeneity of the disease in North-Africa. J Med Genet 1994; 31: 342-343.
    • (1994) J Med Genet , vol.31 , pp. 342-343
    • El Kerch, F.1    Sefiani, A.2    Azibi, K.3
  • 12
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies. Proposal for a new nomenclature
    • 12. Bushby K M D, Beckmann J S. The limb-girdle muscular dystrophies. Proposal for a new nomenclature. Neuromusc Disord 1995; 5: 337-343.
    • (1995) Neuromusc Disord , vol.5 , pp. 337-343
    • Bushby, K.M.D.1    Beckmann, J.S.2
  • 13
    • 0027484535 scopus 로고
    • Genetic heterogeneity for duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis
    • 13. Passos-Bueno M R, Oliveira J R, Bakker E et al. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum Molec Genet 1993; 2: 1945-1947.
    • (1993) Hum Molec Genet , vol.2 , pp. 1945-1947
    • Passos-Bueno, M.R.1    Oliveira, J.R.2    Bakker, E.3
  • 14
    • 0028012859 scopus 로고
    • Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency
    • 14. Romero N B, Tomé F M S, Leturcq F et al. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. C R Acad Sci Paris, Sciences de la vie/Life sciences 1994; 317: 70-76.
    • (1994) C R Acad Sci Paris, Sciences de la Vie/Life Sciences , vol.317 , pp. 70-76
    • Romero, N.B.1    Tomé, F.M.S.2    Leturcq, F.3
  • 15
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • 15. Roberds S L, Leturcq F, Allamand V et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
    • (1994) Cell , vol.78 , pp. 625-633
    • Roberds, S.L.1    Leturcq, F.2    Allamand, V.3
  • 16
    • 0029319426 scopus 로고
    • Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
    • 16. Piccolo F, Roberds S L, Jeanpierre M et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995; 10: 243-245.
    • (1995) Nat Genet , vol.10 , pp. 243-245
    • Piccolo, F.1    Roberds, S.L.2    Jeanpierre, M.3
  • 17
    • 0028971221 scopus 로고
    • β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • 17. Lim L E, Duclos F, Broux O et al. β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257-285.
    • (1995) Nat Genet , vol.11 , pp. 257-285
    • Lim, L.E.1    Duclos, F.2    Broux, O.3
  • 18
    • 0028971219 scopus 로고
    • β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • 18. Bönnemann C G, Modi R, Noguchi S et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995; 11: 266-273.
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3
  • 19
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
    • 19. Noguchi S, McNally E, Ben Othmane K et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.2    Ben Othmane, K.3
  • 20
    • 18544402590 scopus 로고    scopus 로고
    • Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
    • 20. Jung D, Leturcq F, Sunada Y et al. Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 1996; 381: 15-20.
    • (1996) FEBS Lett , vol.381 , pp. 15-20
    • Jung, D.1    Leturcq, F.2    Sunada, Y.3
  • 21
    • 0027032694 scopus 로고
    • Linkage of Tunisian autosomal recessive duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
    • 21. Ben Othmane K, Ben Hamida M, Pericak-Vance M et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992; 2: 315-317.
    • (1992) Nat Genet , vol.2 , pp. 315-317
    • Ben Othmane, K.1    Ben Hamida, M.2    Pericak-Vance, M.3
  • 22
    • 0029094331 scopus 로고
    • Adhalin gene mutations in patients with autosomal recesssive childhood onset muscular dystrophy with adhalin deficiency
    • 22. Kawai H, Akaike M, Endo T et al. Adhalin gene mutations in patients with autosomal recesssive childhood onset muscular dystrophy with adhalin deficiency. J Clin Invest 1995; 96: 1202-1207.
    • (1995) J Clin Invest , vol.96 , pp. 1202-1207
    • Kawai, H.1    Akaike, M.2    Endo, T.3
  • 23
    • 0029047106 scopus 로고
    • A common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
    • 23. Passos-Bueno M R, Moreira E S, Vainzof M et al. A common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Molec Genet 1995; 4: 1163-1167.
    • (1995) Hum Molec Genet , vol.4 , pp. 1163-1167
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vainzof, M.3
  • 24
    • 0029164775 scopus 로고
    • Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
    • 24. Ljunggren A, Duggan D, McNally E et al. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995; 38: 367-372.
    • (1995) Ann Neurol , vol.38 , pp. 367-372
    • Ljunggren, A.1    Duggan, D.2    McNally, E.3
  • 25
    • 0029046994 scopus 로고
    • The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: Immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin
    • 25. Hayashi Y K, Mizuno Y, Yoshida M et al. The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: Immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology 1995; 45: 551-554.
    • (1995) Neurology , vol.45 , pp. 551-554
    • Hayashi, Y.K.1    Mizuno, Y.2    Yoshida, M.3
  • 26
    • 0028805390 scopus 로고
    • Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: A study of 415 families
    • 26. Stec I, Kress W, Meng G et al. Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 families. J Med Genet 1995; 32: 930-933.
    • (1995) J Med Genet , vol.32 , pp. 930-933
    • Stec, I.1    Kress, W.2    Meng, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.