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Volumn 64, Issue 6, 1999, Pages 1524-1540

Calpainopathy - A survey of mutations and polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN;

EID: 0033361883     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302426     Document Type: Article
Times cited : (172)

References (41)
  • 1
    • 0028997311 scopus 로고
    • Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval
    • Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, et al (1995) Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. Am J Hum Genet 56:1417-1430
    • (1995) Am J Hum Genet , vol.56 , pp. 1417-1430
    • Allamand, V.1    Broux, O.2    Richard, I.3    Fougerousse, F.4    Chiannilkulchai, N.5    Bourg, N.6    Brenguier, L.7
  • 2
    • 0031662389 scopus 로고    scopus 로고
    • Characterization of monoclonal antibodies to Calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
    • Anderson LVB, Davison K, Moss JA, Richard I, Fardeau M, Tomé FMS, Hübner C, et al (1998) Characterization of monoclonal antibodies to Calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. Am J Pathol 153:1169-1179
    • (1998) Am J Pathol , vol.153 , pp. 1169-1179
    • Anderson, L.V.B.1    Davison, K.2    Moss, J.A.3    Richard, I.4    Fardeau, M.5    Tomé, F.M.S.6    Hübner, C.7
  • 3
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations: Nomenclature Working Group
    • Antonarakis SE (1998) Recommendations for a nomenclature system for human gene mutations: Nomenclature Working Group. Hum Mutat 11:1-3
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 4
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to the C. elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, et al (1998) A gene related to the C. elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37-42
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5    Lako, M.6    Richard, I.7
  • 8
    • 0028971219 scopus 로고
    • β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, et al (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11:266-273
    • (1995) Nat Genet , vol.11 , pp. 266-273
    • Bönnemann, C.G.1    Modi, R.2    Noguchi, S.3    Mizuno, Y.4    Yoshida, M.5    Gussoni, E.6    McNally, E.M.7
  • 9
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
    • Campbell KP (1995) Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80:675-679
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 10
    • 0028960871 scopus 로고
    • A primary expression map of chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
    • Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS (1995) A primary expression map of chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Hum Mol Genet 4:717-726
    • (1995) Hum Mol Genet , vol.4 , pp. 717-726
    • Chiannilkulchai, N.1    Pasturaud, P.2    Richard, I.3    Auffray, C.4    Beckmann, J.S.5
  • 11
    • 15444348850 scopus 로고    scopus 로고
    • A biochemical, genetic and clinical survey of autosomal recessive limb-girdle muscular dystrophies in Turkey
    • Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Broux O, et al (1997) A biochemical, genetic and clinical survey of autosomal recessive limb-girdle muscular dystrophies in Turkey. Ann Neurol 42:222-229
    • (1997) Ann Neurol , vol.42 , pp. 222-229
    • Dinçer, P.1    Leturcq, F.2    Richard, I.3    Piccolo, F.4    Yalnizoglu, D.5    De Toma, C.6    Broux, O.7
  • 12
    • 0030951089 scopus 로고    scopus 로고
    • Primary adhalinopathy (α-sarcoglycanopathy): Clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy
    • Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, et al (1997) Primary adhalinopathy (α-sarcoglycanopathy): clinical, pathological and genetic correlation in twenty patients with autosomal recessive muscular dystrophy. Neurology 48:1227-1234
    • (1997) Neurology , vol.48 , pp. 1227-1234
    • Eymard, B.1    Romero, N.B.2    Leturcq, F.3    Piccolo, F.4    Carrié, A.5    Jeanpierre, M.6    Collin, H.7
  • 13
    • 0030481058 scopus 로고    scopus 로고
    • Chromosome 15-linked limb girdle muscular dystrophy: Clinical phenotypes in Réunion island and french metropolitan communities
    • Fardeau M, Eymard B, Mignard C, Tomé FMS, Richard I, Beckmann JS (1996a) Chromosome 15-linked limb girdle muscular dystrophy: clinical phenotypes in Réunion island and french metropolitan communities. Neuromusc Disord 6:447-453
    • (1996) Neuromusc Disord , vol.6 , pp. 447-453
    • Fardeau, M.1    Eymard, B.2    Mignard, C.3    Tomé, F.M.S.4    Richard, I.5    Beckmann, J.S.6
  • 14
    • 0029963979 scopus 로고    scopus 로고
    • Juvenile limb-girdle muscular dystrophy: Clinical, histopathological, and genetic data from a small community living in the Reunion Island
    • Fardeau M, Hillaire D, Mignard C, Feingold N, Mignard D, de Ubeda B, Collin H, et al (1996b) Juvenile limb-girdle muscular dystrophy: clinical, histopathological, and genetic data from a small community living in the Reunion Island. Brain 119:295-308
    • (1996) Brain , vol.119 , pp. 295-308
    • Fardeau, M.1    Hillaire, D.2    Mignard, C.3    Feingold, N.4    Mignard, D.5    De Ubeda, B.6    Collin, H.7
  • 16
    • 0002670572 scopus 로고
    • The clinical examination of the voluntary muscles
    • Walton JN (ed). Churchill Livingstone, Edinburgh
    • Gardner-Medwin D, Walton JN (1974) The clinical examination of the voluntary muscles. In: Walton JN (ed) Disorders of the voluntary muscles, 3d ed. Churchill Livingstone, Edinburgh, pp 517-560
    • (1974) Disorders of the Voluntary Muscles, 3d Ed. , pp. 517-560
    • Gardner-Medwin, D.1    Walton, J.N.2
  • 17
    • 0032246535 scopus 로고    scopus 로고
    • A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy
    • Häffner K, Speer A, Hübner C, Voit T, Oexle K (1998) A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy. Hum Mutat Suppl 1:S298-S300
    • (1998) Hum Mutat Suppl , vol.1
    • Häffner, K.1    Speer, A.2    Hübner, C.3    Voit, T.4    Oexle, K.5
  • 18
    • 0005498889 scopus 로고    scopus 로고
    • Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and post-transcriptional events
    • in press
    • Herasse M, Ono Y, Fougerousse F, Kimura E, Beley C, Montarras D, Pinset C, et al. Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and post-transcriptional events. Mol Cell Biol (in press)
    • Mol Cell Biol
    • Herasse, M.1    Ono, Y.2    Fougerousse, F.3    Kimura, E.4    Beley, C.5    Montarras, D.6    Pinset, C.7
  • 19
    • 17644430614 scopus 로고    scopus 로고
    • Clinical, pathological and molecular features of limb-girdle muscular dystrophy (LGMD2A) with new calpain 3 gene mutations in seven patients from three Japanese families
    • Kawai H, Akaike M, Kunishige M, Inui T, Adachi K, Kimura C, Kawajiri T, et al (1998) Clinical, pathological and molecular features of limb-girdle muscular dystrophy (LGMD2A) with new calpain 3 gene mutations in seven patients from three Japanese families. Muscle Nerve 21: 1493-1501
    • (1998) Muscle Nerve , vol.21 , pp. 1493-1501
    • Kawai, H.1    Akaike, M.2    Kunishige, M.3    Inui, T.4    Adachi, K.5    Kimura, C.6    Kawajiri, T.7
  • 20
    • 0028971221 scopus 로고
    • β-sarcoglycan (43DAG): Characterization and role in limb-girdle muscular dystrophy linked to chromosome 4q12
    • Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, et al (1995) β-Sarcoglycan (43DAG): characterization and role in limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet 11:257-265
    • (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
  • 21
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, et al (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy. Nat Genet 20:31-36
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3    Wu, C.4    Fardeau, M.5    Angelini, C.6    Serrano, C.7
  • 22
    • 0031892439 scopus 로고    scopus 로고
    • Cloning and expression of mRNA for calpain Lp82 from rat lens: Splice variant of p94
    • Ma H, Fukiage C, Azuma M, Shearer TR (1998a) Cloning and expression of mRNA for calpain Lp82 from rat lens: splice variant of p94. Invest Ophthalmol Vis Sci 39:454-461
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 454-461
    • Ma, H.1    Fukiage, C.2    Azuma, M.3    Shearer, T.R.4
  • 23
    • 0032144279 scopus 로고    scopus 로고
    • Protein for Lp82 calpain is expressed and enzymatically active in young rat lens
    • Ma H, Shih M, Hata I, Fukiage C, Azuma M, Shearer TR (1998b) Protein for Lp82 calpain is expressed and enzymatically active in young rat lens. Exp Eye Res 67:221-229
    • (1998) Exp Eye Res , vol.67 , pp. 221-229
    • Ma, H.1    Shih, M.2    Hata, I.3    Fukiage, C.4    Azuma, M.5    Shearer, T.R.6
  • 25
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
    • Nigro V, de Sà Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, et al (1996) Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 14:195-198
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    De Sà Moreira, E.2    Piluso, G.3    Vainzof, M.4    Belsito, A.5    Politano, L.6    Puca, A.A.7
  • 26
  • 27
    • 0032479445 scopus 로고    scopus 로고
    • Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A
    • Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, et al (1998) Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. J Biol Chem 273:17073-17078
    • (1998) J Biol Chem , vol.273 , pp. 17073-17078
    • Ono, Y.1    Shimada, H.2    Sorimachi, H.3    Richard, I.4    Saido, T.C.5    Beckmann, J.S.6    Ishiura, S.7
  • 29
    • 0029339936 scopus 로고
    • How neutral are synonymous codon mutations?
    • Richard I, Beckmann JS (1995) How neutral are synonymous codon mutations? Nat Genet 10:259
    • (1995) Nat Genet , vol.10 , pp. 259
    • Richard, I.1    Beckmann, J.S.2
  • 30
    • 16944362484 scopus 로고    scopus 로고
    • Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
    • Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder J-M, Chemaly R, et al (1997) Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 60:1128-1138
    • (1997) Am J Hum Genet , vol.60 , pp. 1128-1138
    • Richard, I.1    Brenguier, L.2    Dinçer, P.3    Roudaut, C.4    Bady, B.5    Burgunder, J.-M.6    Chemaly, R.7
  • 33
    • 0025098474 scopus 로고
    • Exon definition may facilitate splice site selection in RNAs with multiple exons
    • Robberson BL, Cote GJ, Berget SM (1990) Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 10:84-94
    • (1990) Mol Cell Biol , vol.10 , pp. 84-94
    • Robberson, B.L.1    Cote, G.J.2    Berget, S.M.3
  • 35
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acid Res 15: 7155-7174
    • (1987) Nucleic Acid Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 36
    • 0024470631 scopus 로고
    • Scanning from an independently specified branch point defines the 3′ spice site of mammalian exon
    • Smith CWJ, Porro EB, Patton JG, Nadal-Ginard (1989) Scanning from an independently specified branch point defines the 3′ spice site of mammalian exon. Nature 342:243-247
    • (1989) Nature , vol.342 , pp. 243-247
    • Smith, C.W.J.1    Porro, E.B.2    Patton, J.G.3    Nadal-Ginard4
  • 37
    • 0024369426 scopus 로고
    • Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-type: Specific expression of the mRNA in skeletal muscle
    • Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K (1989) Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-type: specific expression of the mRNA in skeletal muscle. J Biol Chem 264:20106-20111
    • (1989) J Biol Chem , vol.264 , pp. 20106-20111
    • Sorimachi, H.1    Imajoh-Ohmi, S.2    Emori, Y.3    Kawasaki, H.4    Ohno, S.5    Minami, Y.6    Suzuki, K.7
  • 40
    • 0000926583 scopus 로고
    • Non-radioactive multiplex procedure for genotyping of microsatellite markers
    • Adolph KW (ed). Academic Press, San Diego
    • Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, et al (1993) Non-radioactive multiplex procedure for genotyping of microsatellite markers. In: Adolph KW (ed) Methods in molecular genetics. Academic Press, San Diego, pp 211-221
    • (1993) Methods in Molecular Genetics , pp. 211-221
    • Vignal, A.1    Gyapay, G.2    Hazan, J.3    Nguyen, S.4    Dupraz, C.5    Cheron, N.6    Becuwe, N.7
  • 41
    • 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 CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, et al (1998) 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 63:140-147
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.