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Items: 1 to 20 of 135

1.

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.

Ermolova N, Kudryashova E, DiFranco M, Vergara J, Kramerova I, Spencer MJ.

Hum Mol Genet. 2011 Sep 1;20(17):3331-45. doi: 10.1093/hmg/ddr239. Epub 2011 May 30.

2.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.

Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.

PMID:
25877298
3.

Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.

Ermolova N, Kramerova I, Spencer MJ.

J Biol Chem. 2015 Jan 9;290(2):996-1004. doi: 10.1074/jbc.M114.588780. Epub 2014 Nov 11.

4.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.

Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.

PMID:
27259757
5.

Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.

DiFranco M, Kramerova I, Vergara JL, Spencer MJ.

Skelet Muscle. 2016 Feb 24;6:11. doi: 10.1186/s13395-016-0081-y. eCollection 2016.

6.

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

Fanin M, Nascimbeni AC, Angelini C.

J Med Genet. 2007 Jan;44(1):38-43. Epub 2006 Sep 13.

7.

Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.

Ojima K, Ono Y, Hata S, Noguchi S, Nishino I, Sorimachi H.

Genes Cells. 2014 Nov;19(11):830-41. doi: 10.1111/gtc.12181. Epub 2014 Sep 24.

8.

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. 2005 Oct 1;14(19):2801-11. Epub 2005 Aug 22.

9.

The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation.

Ono Y, Shindo M, Doi N, Kitamura F, Gregorio CC, Sorimachi H.

Proc Natl Acad Sci U S A. 2014 Dec 23;111(51):E5527-36. doi: 10.1073/pnas.1411959111. Epub 2014 Dec 15.

10.

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. 2008 Aug;16(8):935-40. doi: 10.1038/ejhg.2008.47. Epub 2008 Mar 12.

11.

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS.

J Korean Med Sci. 2007 Jun;22(3):463-9.

12.

Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.

Al-Harbi TM, Abdulmanaʼ SO, Dridi W.

J Clin Neuromuscul Dis. 2016 Dec;18(2):89-91.

PMID:
27861222
13.

Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.

Ramos E, Pardo S, Mas Rodríguez MF, Vélez J.

J Clin Neuromuscul Dis. 2015 Dec;17(2):59-62. doi: 10.1097/CND.0000000000000097.

PMID:
26583491
14.

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Blázquez L, Azpitarte M, Sáenz A, Goicoechea M, Otaegui D, Ferrer X, Illa I, Gutierrez-Rivas E, Vilchez JJ, López de Munain A.

Neurogenetics. 2008 Jul;9(3):173-82. doi: 10.1007/s10048-008-0129-1. Epub 2008 Jun 19.

PMID:
18563459
15.

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B.

J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15.

16.

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Tagawa K, Taya C, Hayashi Y, Nakagawa M, Ono Y, Fukuda R, Karasuyama H, Toyama-Sorimachi N, Katsui Y, Hata S, Ishiura S, Nonaka I, Seyama Y, Arahata K, Yonekawa H, Sorimachi H, Suzuki K.

Hum Mol Genet. 2000 May 22;9(9):1393-402.

PMID:
10814721
17.

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.

Pediatr Neonatol. 2015 Feb;56(1):62-5. doi: 10.1016/j.pedneo.2013.01.018. Epub 2013 Mar 7.

18.

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.

Brain. 2005 Apr;128(Pt 4):732-42. Epub 2005 Feb 2.

PMID:
15689361
19.

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).

Kramerova I, Ermolova N, Eskin A, Hevener A, Quehenberger O, Armando AM, Haller R, Romain N, Nelson SF, Spencer MJ.

Hum Mol Genet. 2016 Jun 1;25(11):2194-2207. Epub 2016 Mar 22.

20.

An eccentric calpain, CAPN3/p94/calpain-3.

Ono Y, Ojima K, Shinkai-Ouchi F, Hata S, Sorimachi H.

Biochimie. 2016 Mar;122:169-87. doi: 10.1016/j.biochi.2015.09.010. Epub 2015 Sep 10. Review.

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