메뉴 건너뛰기




Volumn 642, Issue , 2008, Pages 28-39

Nebulin-a giant chameleon

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; NEBULIN;

EID: 60549100853     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-84847-1_3     Document Type: Article
Times cited : (21)

References (59)
  • 1
    • 0019028451 scopus 로고
    • Identification of an N2 line protein of striated muscle
    • USA
    • Wang K, Williamson CL. Identification of an N2 line protein of striated muscle. Proc Natl Acad Sci USA 1980; 77:3254-3258.
    • (1980) Proc. Natl. Acad. Sci. , vol.77 , pp. 3254-3258
    • Wang, K.1    Williamson, C.L.2
  • 4
    • 33745243854 scopus 로고    scopus 로고
    • Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle
    • Bang ML, Li X, Littlefield R et al. Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 2006; 173:905-916.
    • (2006) J. Cell Biol. , vol.173 , pp. 905-916
    • Bang, M.L.1    Li, X.2    Littlefield, R.3
  • 5
    • 33748058496 scopus 로고    scopus 로고
    • Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo
    • DOI 10.1038/sj.emboj.7601242, PII 7601242
    • Witt CC, Burkart C, Labeit D et al. Nebulin regulates thin filament length, contractility and Z-disk structure in vivo. EMBO J 2006; 25:3843-3855. (Pubitemid 44300270)
    • (2006) EMBO Journal , vol.25 , Issue.16 , pp. 3843-3855
    • Witt, C.C.1    Burkart, C.2    Labeit, D.3    McNabb, M.4    Wu, Y.5    Granzier, H.6    Labeit, S.7
  • 8
    • 0028784365 scopus 로고
    • Nebulette: A 107 kD nebulin-like protein in cardiac muscle
    • Moncman CL, Wang K. Nebulette: A 107 kD nebulin-like protein in cardiac muscle. Cell Motil Cytoskeleton 1995; 32:205-225.
    • (1995) Cell Motil. Cytoskeleton. , vol.32 , pp. 205-225
    • Moncman, C.L.1    Wang, K.2
  • 9
    • 0027317049 scopus 로고
    • Nebulin as an actin zipper. A two-module nebulin fragment promotes actin nucleation and stabilizes actin filaments
    • Chen MJ, Shih CL, Wang K. Nebulin as an actin zipper. A two-module nebulin fragment promotes actin nucleation and stabilizes actin filaments. J Biol Chem 1993; 268:20327-20334. (Pubitemid 23278940)
    • (1993) Journal of Biological Chemistry , vol.268 , Issue.27 , pp. 20327-20334
    • Chen, M.-J.G.1    Shih, C.-L.2    Wang, K.3
  • 10
    • 0028837009 scopus 로고
    • Microscopic analysis of the elastic properties of nebulin in skeletal myofibrils
    • Yasuda K, Anazawa T, Ishiwata S. Microscopic analysis of the elastic properties of nebulin in skeletal myofibrils. Biophys J 1995; 68:598-608.
    • (1995) Biophys. J. , vol.68 , pp. 598-608
    • Yasuda, K.1    Anazawa, T.2    Ishiwata, S.3
  • 11
    • 0028101984 scopus 로고
    • Sequential appearance of muscle-specific proteins in myoblasts as a function of time after cell division: Evidence for a conserved myoblast differentiation program in skeletal muscle
    • Lin Z, Lu MH, Schultheiss T et al. Sequential appearance of muscle-specific proteins in myoblasts as a function of time after cell division: Evidence for a conserved myoblast differentiation program in skeletal muscle. Cell Motil Cytoskeleton 1994; 29:1-19. (Pubitemid 24278002)
    • (1994) Cell Motility and the Cytoskeleton , vol.29 , Issue.1 , pp. 1-19
    • Lin, Z.1    Lu, M.-H.2    Schultheiss, T.3    Choi, J.4    Holtzer, S.5    DiLullo, C.6    Fischman, D.A.7    Holtzer, H.8
  • 12
  • 13
    • 0037022537 scopus 로고    scopus 로고
    • Each actin subunit has three nebulin binding sites: Implications for steric blocking
    • DOI 10.1016/S0960-9822(02)00678-4, PII S0960982202006784
    • Lukoyanova N, VanLoock MS, Orlova A et al. Each actin subunit has three nebulin binding sites: Implications for steric blocking. Curr Biol 2002; 12:383-388. (Pubitemid 34209285)
    • (2002) Current Biology , vol.12 , Issue.5 , pp. 383-388
    • Lukoyanova, N.1    VanLoock, M.S.2    Orlova, A.3    Galkin, V.E.4    Wang, K.5    Egelman, E.H.6
  • 14
    • 0029037896 scopus 로고
    • The complete primary structure of human nebulin and its correlation to muscle structure
    • Labeit S, Kolmerer B. The complete primary structure of human nebulin and its correlation to muscle structure. J Mol Biol 1995; 248:308-315.
    • (1995) J. Mol. Biol. , vol.248 , pp. 308-315
    • Labeit, S.1    Kolmerer, B.2
  • 16
    • 0035808418 scopus 로고    scopus 로고
    • The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments
    • DOI 10.1074/jbc.M005693200
    • McElhinny AS, Kolmerer B, Fowler VM et al. The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments. J Biol Chem 2001; 276:583-592. (Pubitemid 32050355)
    • (2001) Journal of Biological Chemistry , vol.276 , Issue.1 , pp. 583-592
    • McElhinny, A.S.1    Kolmerer, B.2    Fowler, V.M.3    Labeit, S.4    Gregorio, C.C.5
  • 19
    • 18744397819 scopus 로고    scopus 로고
    • Molecular dissection of the interaction of desmin with the C-terminal region of nebulin
    • DOI 10.1006/jsbi.2002.4457
    • Bang ML, Gregorio C, Labeit S. Molecular dissection of the interaction of desmin with the C-terminal region of nebulin. J Struct Biol 2002; 137:119-127. (Pubitemid 35430427)
    • (2002) Journal of Structural Biology , vol.137 , Issue.1-2 , pp. 119-127
    • Bang, M.-L.1    Gregorio, C.2    Labeit, S.3
  • 20
    • 0033866545 scopus 로고    scopus 로고
    • Architecture of the thin filament-Z-line junction: Lessons from nebulette and nebulin homologies
    • DOI 10.1023/A:1005697226465
    • Moncman CL, Wang K. Architecture of the thin filament-Z-line junction: Lessons from nebulette and nebulin homologies. J Muscle Res Cell Motil 2000; 21:153-169. (Pubitemid 30612265)
    • (2000) Journal of Muscle Research and Cell Motility , vol.21 , Issue.2 , pp. 153-169
    • Moncman, C.L.1    Wang, K.2
  • 21
    • 0025810111 scopus 로고
    • Evidence that nebulin is a protein-ruler in muscle thin filaments
    • Labeit S, Gibson T, Lakey A et al. Evidence that nebulin is a protein-ruler in muscle thin filaments. FEBS Lett 1991; 282:313-316.
    • (1991) FEBS Lett. , vol.282 , pp. 313-316
    • Labeit, S.1    Gibson, T.2    Lakey, A.3
  • 22
    • 0026008748 scopus 로고
    • Nebulin as a length regulator of thin filaments of vertebrate skeletal muscles: Correlation of thin filament length, nebulin size, and epitope profile
    • Kruger M, Wright J, Wang K. Nebulin as a length regulator of thin filaments of vertebrate skeletal muscles: Correlation of thin filament length, nebulin size and epitope profile. J Cell Biol 1991; 115:97-107. (Pubitemid 21909897)
    • (1991) Journal of Cell Biology , vol.115 , Issue.1 , pp. 97-107
    • Kruger, M.1    Wright, J.2    Wang, K.3
  • 24
    • 33748855384 scopus 로고    scopus 로고
    • Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128
    • DOI 10.1016/j.ygeno.2006.06.008, PII S0888754306001790
    • Donner K, Nowak KJ, Aro M et al. Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128. Genomics 2006; 88:489-495. (Pubitemid 44419460)
    • (2006) Genomics , vol.88 , Issue.4 , pp. 489-495
    • Donner, K.1    Nowak, K.J.2    Aro, M.3    Pelin, K.4    Wallgren-Pettersson, C.5
  • 25
    • 0036788820 scopus 로고    scopus 로고
    • Nebulin mutations in autosomal recessive nemaline myopathy: An update
    • Pelin K, Donner K, Holmberg M et al. Nebulin mutations in autosomal recessive nemaline myopathy: An update. Neuromuscul Disord 2002; 12:680-686.
    • (2002) Neuromuscul. Disord. , vol.12 , pp. 680-686
    • Pelin, K.1    Donner, K.2    Holmberg, M.3
  • 29
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten JP, McElgunn CJ, Waaijer R et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30:e57.
    • (2002) Nucleic Acids Res. , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3
  • 30
    • 0000230326 scopus 로고
    • Light and electron microscopic studies of myogranules in a child with hypotonia and muscle weakness
    • Conen PE, Murphy EG, Donohue WL. Light and electron microscopic studies of myogranules in a child with hypotonia and muscle weakness. Can Med Assoc J 1963; 89:983-986.
    • (1963) Can. Med. Assoc. J. , vol.89 , pp. 983-986
    • Conen, P.E.1    Murphy, E.G.2    Donohue, W.L.3
  • 31
    • 0001313262 scopus 로고
    • Nemaline myopathy a new congenital myopathy
    • Shy GM, Engel WK, Somers JE et al. Nemaline myopathy. A new congenital myopathy. Brain 1963; 86:793-810.
    • (1963) Brain , vol.86 , pp. 793-810
    • Shy, G.M.1    Engel, W.K.2    Somers, J.E.3
  • 32
    • 16944367068 scopus 로고    scopus 로고
    • Nemaline myopathy: Current concepts the ENMC international consortium and nemaline myopathy
    • North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: Current concepts. the ENMC international consortium and nemaline myopathy. J Med Genet 1997; 34:705-713.
    • (1997) J. Med. Genet. , vol.34 , pp. 705-713
    • North, K.N.1    Laing, N.G.2    Wallgren-Pettersson, C.3
  • 33
    • 34249102439 scopus 로고    scopus 로고
    • The congenital structural myopathies
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. 5th ed. London: Churchill Livingstone
    • Wallgren-Pettersson C, Jungbluth H. The congenital (structural) myopathies. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery & Rimoins Principles and Practice of Medical Genetics, 5th ed. London: Churchill Livingstone, 2007:2963-3000.
    • (2007) Emery & Rimoins Principles and Practice of Medical Genetics , pp. 2963-3000
    • Wallgren-Pettersson, C.1    Jungbluth, H.2
  • 34
    • 84886612473 scopus 로고
    • Nemaline myopathy an integrated study: Selective extraction
    • Stromer MH, Tabatabai LB, Robson RM et al. Nemaline myopathy, an integrated study: Selective extraction. Exp Neurol 1976; 50:402-421.
    • (1976) Exp. Neurol. , vol.50 , pp. 402-421
    • Stromer, M.H.1    Tabatabai, L.B.2    Robson, R.M.3
  • 35
    • 0019304558 scopus 로고
    • Immunofluorescence microscopy of a myopathy. α-Actinin is a major constituent of nemaline rods
    • DOI 10.1016/0014-4827(80)90445-0
    • Jockusch BM, Veldman H, Griffiths GW et al. Immunofluorescence microscopy of a myopathy. alpha-actinin is a major constituent of nemaline rods. Exp Cell Res 1980; 127:409-420. (Pubitemid 10012226)
    • (1980) Experimental Cell Research , vol.127 , Issue.2 , pp. 409-420
    • Jockusch, B.M.1    Veldman, H.2    Griffiths, G.W.3
  • 36
    • 0018969921 scopus 로고
    • The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle. An immunohistochemical and electron-microscopic study
    • DOI 10.1016/0022-510X(80)90001-5
    • Thornell LE, Edstrom L, Eriksson A et al. The distribution of intermediate filament protein (skeletin) in normal and diseased human skeletal muscle-An immunohistochemical and electron-microscopic study. J Neurol Sci 1980; 47:153-170. (Pubitemid 10046294)
    • (1980) Journal of the Neurological Sciences , vol.47 , Issue.2 , pp. 153-170
    • Thornell, L.E.1    Edstrom, L.2    Eriksson, A.3
  • 38
    • 0028926723 scopus 로고
    • Alpha-actinin in nemaline bodies in congenital nemaline myopathy: Immunological confirmation by light and electron microscopy
    • Wallgren-Pettersson C, Jasani B, Newman GR et al. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: Immunological confirmation by light and electron microscopy. Neuromuscul Disord 1995; 5:93-104.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 93-104
    • Wallgren-Pettersson, C.1    Jasani, B.2    Newman, G.R.3
  • 39
  • 42
    • 0034213947 scopus 로고    scopus 로고
    • Report of the 70th ENMC International Workshop: Nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands
    • DOI 10.1016/S0960-8966(99)00129-7, PII S0960896699001297
    • Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC international workshop: Nemaline myopathy, 1999, Naarden, the Netherlands. Neuromuscul Disord 2000; 10:299-306. (Pubitemid 30320922)
    • (2000) Neuromuscular Disorders , vol.10 , Issue.4-5 , pp. 299-306
    • Wallgren-Pettersson, C.1    Laing, N.G.2
  • 43
    • 0028876118 scopus 로고
    • A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis
    • Wallgren-Pettersson C, Avela K, Marchand S et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord 1995; 5:441-443.
    • (1995) Neuromuscul. Disord. , vol.5 , pp. 441-443
    • Wallgren-Pettersson, C.1    Avela, K.2    Marchand, S.3
  • 45
    • 0026611338 scopus 로고
    • Assignment of a gene NEMI for autosomal dominant nemaline myopathy to chromosome I
    • Laing NG, Majda BT, Akkari PA et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet 1992; 50:576-583.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 576-583
    • Laing, N.G.1    Majda, B.T.2    Akkari, P.A.3
  • 46
    • 0028852835 scopus 로고
    • A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    • Laing NG, Wilton SD, Akkari PA et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995; 9:75-79.
    • (1995) Nat. Genet. , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3
  • 48
    • 0033799745 scopus 로고    scopus 로고
    • A novel nemaline myopathy in the amish caused by a mutation in troponin T1
    • Johnston JJ, Kelley RI, Crawford TO et al. A novel nemaline myopathy in the amish caused by a mutation in troponin T1. Am J Hum Genet 2000; 67:814-821.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 814-821
    • Johnston, J.J.1    Kelley, R.I.2    Crawford, T.O.3
  • 51
    • 0036788819 scopus 로고    scopus 로고
    • Mutations in the nebulin gene can cause severe congenital nemaline myopathy
    • Wallgren-Pettersson C, Donner K, Sewry C et al. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord 2002; 12:674-679.
    • (2002) Neuromuscul. Disord. , vol.12 , pp. 674-679
    • Wallgren-Pettersson, C.1    Donner, K.2    Sewry, C.3
  • 52
    • 0024493023 scopus 로고
    • Congenital nemaline myopathy. A clinical follow-up study of twelve patients
    • DOI 10.1016/0022-510X(89)90002-6
    • Wallgren-Pettersson C. Congenital nemaline myopathy. A clinical follow-up of twelve patients. J Neurol Sci 1989; 89:1-14. (Pubitemid 19029970)
    • (1989) Journal of the Neurological Sciences , vol.89 , Issue.1 , pp. 1-14
    • Wallgren-Pettersson, C.1
  • 56
    • 0344687355 scopus 로고    scopus 로고
    • 117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders - Congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands
    • DOI 10.1016/j.nmd.2003.09.003
    • Wallgren-Pettersson C, Bushby K, Mellies U et al. 117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders-Congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 2003, Naarden, The Netherlands: Neuromuscul Disord 2004; 14:56-69. (Pubitemid 37494955)
    • (2004) Neuromuscular Disorders , vol.14 , Issue.1 , pp. 56-69
    • Wallgren-Pettersson, C.1    Bushby, K.2    Mellies, U.3    Simonds, A.4
  • 57
    • 0028813434 scopus 로고
    • Autosomal dominant distal myopathy: Linkage to chromosome 14
    • Laing NG, Laing BA, Meredith C et al. Autosomal dominant distal myopathy: Linkage to chromosome 14. Am J Hum Genet 1995; 56:422-427.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 422-427
    • Laing, N.G.1    Laing, B.A.2    Meredith, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.