| 1 | CAPN3, LGMD2A
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| Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
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| Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.
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| Muscle Nerve uscle Nerve. 2014 Apr 9. doi: 10.1002/mus.24263. [Epub ahead of print]
2014
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| 2 | CAPN3, CTBP1, SIMC1
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| PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
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| Ono Y, Iemura S, Novak SM, Doi N, Kitamura F, Natsume T, Gregorio CC, Sorimachi H.
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| J Mol Biol 425(16):2955-72. doi: 10.1016/j.jmb.2013.05.009. Epub 2013 May 21.
2013
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| 3 | CAPN3, NACA
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| skNAC depletion stimulates myoblast migration and perturbs sarcomerogenesis by enhancing calpain 1 and 3 activity.
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| Berkholz J, Zakrzewicz A, Munz B.
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| Biochem J 453(2):303-10. doi: 10.1042/BJ20130195.
2013
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| 4 | CAPN3, FRG1, RBFOX1
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| Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).
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| Pistoni M, Shiue L, Cline MS, Bortolanza S, Neguembor MV, Xynos A, Ares M Jr, Gabellini D.
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| PLoS Genet 9(1):e1003186. doi: 10.1371/journal.pgen.1003186. Epub 2013 Jan 3.
2013
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| 5 | CAPN3, LGMD2A
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| CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
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| Salem IH, Hsairi I, Mezghani N, Kenoun H, Triki C, Fakhfakh F.
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| J Hum Genet 57(2):92-100. doi: 10.1038/jhg.2011.129. Epub 2011 Dec 8.
2012
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| 6 | CAPN3, LGMD2A
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| Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
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| Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, Krag TO.
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| BMC Musculoskelet Disord 13:43. doi: 10.1186/1471-2474-13-43.
2012
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| 7 | CAPN3, LGMD2A
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| Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
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| Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.
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| Clin Genet 80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. No abstract available.
2011
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| 8 | CAPN3
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| Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
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| Ono Y, Ojima K, Torii F, Takaya E, Doi N, Nakagawa K, Hata S, Abe K, Sorimachi H.
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| J Biol Chem 285(30):22986-98. Epub 2010 May 11.
2010
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| 9 | CAPN3, LGMD2A
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| Transcriptional and translational effects of intronic CAPN3 gene mutations.
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| Nascimbeni AC, Fanin M, Tasca E, Angelini C.
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| Hum Mutat 31(9):E1658-69.PMID: 20635405 2010
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| 10 | CAPN3, LGMD2A
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| Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
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| Ojima K, Kawabata Y, Nakao H, Nakao K, Doi N, Kitamura F, Ono Y, Hata S, Suzuki H, Kawahara H, Bogomolovas J, Witt C, Ottenheijm C, Labeit S, Granzier H, Toyama-Sorimachi N, Sorimachi M, Suzuki K, Maeda T, Abe K, Aiba A, Sorimachi H.
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| J Clin Invest 120(8):2672-83. doi: 10.1172/JCI40658. Epub 2010 Jul 1.PMID: 20592470 2010
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| 11 | CAPN3, LGMD2A
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| Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
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| Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.
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| Clin Genet lin Genet. 2010 Dec 27. doi: 10.1111/j.1399-0004.2010.01620.x. [Epub ahead of print] No abstract available.
2010
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| 12 | CAPN3, LGMD2A
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| Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
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| Kramerova I, Kudryashova E, Wu B, Germain S, Vandenborne K, Romain N, Haller RG, Verity MA, Spencer MJ.
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| Hum Mol Genet 18(17):3194-205. Epub 2009 May 29.PMID: 19483197 2009
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| 13 | CAPN3
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| Calpain expression and activity during lens fiber cell differentiation.
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| De Maria A, Shi Y, Kumar NM, Bassnett S.
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| J Biol Chem 284(20):13542-50. Epub 2009 Mar 6.PMID: 19269960 2009
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| 14 | CAPN3, LGMD2A
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| cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
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| Duno M, Sveen ML, Schwartz M, Vissing J.
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| Eur J Hum Genet 16(8):935-40. Epub 2008 Mar 12.
2008
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| 15 | CAPN3, DYSF
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| Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
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| Huang Y, de MorrŽe A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, van der Maarel SM.
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| Hum Mol Genet 17(12):1855-66. Epub 2008 Mar 11. 2008
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| 16 | CAPN3
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| Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.
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| Kramerova I, Kudryashova E, Wu B, Ottenheijm C, Granzier H, Spencer MJ.
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| Hum Mol Genet 17(21):3271-80. Epub 2008 Aug 1.
2008
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| 17 | CAPN3
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| Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
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| Beckmann JS, Spencer M.
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| Neuromuscul Disord 18(12):913-21. Epub 2008 Oct 29. Review.PMID: 18974005 2008
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| 18 | CAPN3
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| Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
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| Krahn M, PŽcheux C, Chapon F, BŽroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, LŽvy N.
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| Clin Genet 72(6):582-92. Epub 2007 Nov 1. 2007
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| 19 | CAPN3, LGMD2A
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| Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
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| Kramerova I, Beckmann JS, Spencer MJ.
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| Biochim Biophys Acta 1772(2):128-44. Epub 2006 Jul 15. Review.
2007
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| 20 | CAPN3, LGMD2A
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| Screening of the CAPN3 gene in patients with possible LGMD2A.
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| Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N; The Calpain Study Group of the French LGMD Network.
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| Clin Genet 69(5):444-9. No abstract available. 2006
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| 21 | CAPN3
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| Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.
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| Ono Y, Torii F, Ojima K, Doi N, Yoshioka K, Kawabata Y, Labeit D, Labeit S, Suzuki K, Abe K, Maeda T, Sorimachi H.
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| J Biol Chem 281(27):18519-31. Epub 2006 Apr 20. 2006
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| 22 | LGMD2A, CAPN3
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| Novel mutations in the calpain 3 gene in Germany.
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| Todorova A, Kress W, Mueller C.
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| Clin Genet 67(4):356-8. No abstract available. 2005
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| 23 | LGMD2A, CAPN3
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| Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.
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| Kramerova I, Kudryashova E, Venkatraman G, Spencer MJ.
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| Hum Mol Genet 14(15):2125-34. Epub 2005 Jun 16. 2005
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| 24 | LGMD2A, CAPN3
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| Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
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| Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V.
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| J Med Genet 42(9):686-93. 2005
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| 25 | LGMD2J, CAPN3, TTN
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| Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
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| Huebsch KA, Kudryashova E, Wooley CM, Sher RB, Seburn KL, Spencer MJ, Cox GA.
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| Hum Mol Genet 14(19):2801-11. Epub 2005 Aug 22. 2005
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| 26 | LGMD2A, CAPN3
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| Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
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| Jenne DE, Kley RA, Vorgerd M, Schroder JM, Weis J, Reimann H, Albrecht B, Nurnberg P, Thiele H, Muller CR, Meng G, Witt CC, Labeit S.
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| Biol Chem 386(1):61-7. 2005
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| 27 | CAPN3, LGMD2A
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| Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
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| Keira Y, Noguchi S, Minami N, Hayashi YK, Nishino I.
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| J Biochem (Tokyo) 133(5):659-64. 2003
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| 28 | CAPN3
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| Calpain 3 gene expression in skeletal muscle is associated with body fat content and measures of insulin resistance.
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| Walder K, McMillan J, Lapsys N, Kriketos A, Trevaskis J, Civitarese A, Southon A, Zimmet P, Collier G.
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| Int J Obes Relat Metab Disord 26(4):442-9. 2002
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| 29 | CAPN3
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| Characterization and regulation of lens-specific calpain Lp82.
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| Fukiage C, Nakajima E, Ma H, Azuma M, Shearer TR.
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| J Biol Chem 277(23):20678-85. Epub 2002 Mar 19. 2002
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| 30 | CAPN1, CAPN11, CAPN12, CAPN2, CAPN3, CAPN9
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| Both the conserved and the unique gene structure of stomach-specific calpains reveal processes of calpain gene evolution.
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| Hata S, Nishi K, Kawamoto T, Lee HJ, Kawahara H, Maeda T, Shintani Y, Sorimachi H, Suzuki K.
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| J Mol Evol 53(3):191-203.
2001
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| 31 | CAPN3
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| Calpain3 expression during human cardiogenesis.
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| Fougerousse F, Anderson LV, Delezoide AL, Suel L, Durand M, Beckmann JS.
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| Neuromuscul Disord 10(4-5):251-6. 2000
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| 32 | CAPN3, DYSF
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| Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
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| Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM.
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| Neuromuscul Disord 10(8):553-9. 2000
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| 33 | CAPN3, LGMD2A
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| Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
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| Chou FL, et al.
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| Neurology 52(5):1015-20. 1999
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| 34 | CAPN3, LGMD2A
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| Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
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| Minami N, Nishino I, Kobayashi O, Ikezoe K, Goto Y, Nonaka I.
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| J Neurol Sci 171(1):31-7. 1999
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| 35 | CAPN3
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| Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events.
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| Herasse M, Ono Y, Fougerousse F, Kimura E, Stockholm D, Beley C, Montarras D, Pinset C, Sorimachi H, Suzuki K, Beckmann JS, Richard I.
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| Mol Cell Biol 19(6):4047-55. 1999
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| 36 | CAPN3, SGCA, SGCB, TTN
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| Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
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| Fougerousse F, Durand M, Suel L, Pourquie O, Delezoide AL, Romero NB, Abitbol M, Beckmann JS.
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| Genomics 48(2):145-56. 1998
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| 37 | CAPN3, LGMD2A
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| Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
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| Ono Y, et al.
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| J Biol Chem 273 : 17073-17078. 1998
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| 38 | CAPN3, LGMD2A
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| Limb girdle muscular dystrophy type 2A (CAPN3) : mapping using allelic association.
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| Lonjou C, Collins A, Beckmann J, Allamand V, Morton N.
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| Hum Hered 48 : 333-337. 1998
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| 39 | CAPN3, LGMD2A
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| Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
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| Kawai H, et al.
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| Muscle Nerve 21 : 1493-1501. 1998
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| 40 | CAPN3, LGMD2A
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| Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
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| Anderson LV, et al.
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| Am J Pathol 153 : 1169-1179. 1998
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| 41 | CAPN3, LGMD2A
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| Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
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| Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS.
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| Am J Hum Genet 60(5):1128-38. 1997
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| 42 | CAPN3, LGMD2A
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| Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
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| Sorimachi H, et al.
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| J Biol Chem 270 : 31158-31162. 1995
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| 43 | CAPN3, LGMD2A
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| Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
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| Richard I, et al.
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| Cell 81 : 27-40. 1995
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| 44 | B2M, CAPN3, LGMD2A, SORD, FDPSL4
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| A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
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| Chiannilkulchai N, et al.
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| Hum Mol Genet 4 : 717-725. 1995
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| 45 | CAPN3, CAPN5, CAPN6, CAPN8, CAPN9
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| New era of calpain research. Discovery of tissue-specific calpains.
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| Sorimachi H, Saido TC, Suzuki K.
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| FEBS Lett 343(1):1-5. Review. 1994
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| 46 | CAPN1, CAPN2, CAPN3, CAPNS1
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| Four genes for the calpain family locate on four distinct human chromosomes.
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| Ohno S, et al.
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| Cytogenet Cell Genet 53 : 225-229. 1990
|