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