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Items: 1 to 20 of 57

1.
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal
Orphanet J Rare Dis. 2024; 19: 140. Published online 2024 Apr 1. doi: 10.1186/s13023-024-03158-1
PMCID:
PMC10983654
AbstractArticlePDF–2.3M
2.
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Maike Tomforde, Meike Steinbach, Tobias B. Haack, Gregor Kuhlenbäumer
Neurogenetics. 2023; 24(4): 273–278. Published online 2023 Aug 17. doi: 10.1007/s10048-023-00728-6
PMCID:
PMC10545561
AbstractArticlePDF–630K
3.
Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation
Stefan G. Wette, Graham D. Lamb, Robyn M. Murphy
Int J Mol Sci. 2023 Jun; 24(11): 9405. Published online 2023 May 28. doi: 10.3390/ijms24119405
PMCID:
PMC10253552
AbstractArticlePDF–2.3M
4.
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC
Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.
PMCID:
PMC6859413
AbstractArticlePDF–291K
5.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano
Ann Clin Transl Neurol. 2019 Nov; 6(11): 2328–2333. Published online 2019 Oct 14. doi: 10.1002/acn3.50910
PMCID:
PMC6856619
AbstractArticlePDF–874K
6.
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Jaione Lasa-Elgarresta, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, Ainara Vallejo-Illarramendi
Int J Mol Sci. 2019 Sep; 20(18): 4548. Published online 2019 Sep 13. doi: 10.3390/ijms20184548
PMCID:
PMC6770289
AbstractArticlePDF–2.6M
7.
AUTOSOMAL DOMINANT CALPAINOPATHY DUE TO HETEROZYGOUS CAPN3 C.643_663DEL21
JENNIFER M. MARTINEZ-THOMPSON, ZHIYV NIU, JENNIFER A. TRACY, STEVEN A. MOORE, ANDREA SWENSON, ERIC D. WIEBEN, MARGHERITA MILONE
Muscle Nerve. Author manuscript; available in PMC 2018 Apr 24.
Published in final edited form as: Muscle Nerve. 2018 Apr; 57(4): 679–683. Published online 2017 Sep 30. doi: 10.1002/mus.25970
PMCID:
PMC5915624
AbstractArticlePDF–341K
8.
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation
Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno
PLoS One. 2017; 12(1): e0170280. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0170280
PMCID:
PMC5245889
AbstractArticlePDF–1.2M
9.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
Inna Inashkina, Eriks Jankevics, Janis Stavusis, Inta Vasiljeva, Kristine Viksne, Ieva Micule, Jurgis Strautmanis, Maruta S. Naudina, Loreta Cimbalistiene, Vaidutis Kucinskas, Astrida Krumina, Algirdas Utkus, Birute Burnyte, Ausra Matuleviciene, Baiba Lace
BMC Musculoskelet Disord. 2016; 17: 200. Published online 2016 May 4. doi: 10.1186/s12891-016-1058-z
PMCID:
PMC4855345
AbstractArticlePDF–438K
10.
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young-Chul Choi
Yonsei Med J. 2016 Jan 1; 57(1): 173–179. Published online 2015 Nov 30. doi: 10.3349/ymj.2016.57.1.173
PMCID:
PMC4696950
AbstractArticlePDF–2.2M
11.
Calpain-3 Impairs Cell Proliferation and Stimulates Oxidative Stress-Mediated Cell Death in Melanoma Cells
Daniele Moretti, Barbara Del Bello, Giulia Allavena, Alessandro Corti, Cinzia Signorini, Emilia Maellaro
PLoS One. 2015; 10(2): e0117258. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117258
PMCID:
PMC4319969
AbstractArticlePDF–1.4M
12.
The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation
Yasuko Ono, Mayumi Shindo, Naoko Doi, Fujiko Kitamura, Carol C. Gregorio, Hiroyuki Sorimachi
Proc Natl Acad Sci U S A. 2014 Dec 23; 111(51): E5527–E5536. Published online 2014 Dec 15. doi: 10.1073/pnas.1411959111
PMCID:
PMC4280609
AbstractArticlePDF–1.3M
13.
Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies
Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing, Thomas O Krag
BMC Musculoskelet Disord. 2012; 13: 43. Published online 2012 Mar 23. doi: 10.1186/1471-2474-13-43
PMCID:
PMC3338386
AbstractArticlePDF–2.1M
14.
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
Marina Fanin, Anna Chiara Nascimbeni, Elisabetta Tasca, Corrado Angelini
Eur J Hum Genet. 2009 May; 17(5): 598–603. Published online 2008 Oct 15. doi: 10.1038/ejhg.2008.193
PMCID:
PMC2986267
AbstractArticlePDF–119K
15.
Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations
Anna Chiara Nascimbeni, Marina Fanin, Elisabetta Tasca, Corrado Angelini
Hum Mutat. 2010 Jul 15; 31(9): e1658–e1669. doi: 10.1002/humu.21320
PMCID:
PMC2966865
AbstractArticlePDF–334K
16.
Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy
Jin-Hong Shin, Hyang-Suk Kim, Chang-Hoon Lee, Cheol-Min Kim, Kyu-Hyun Park, Dae-Seong Kim
J Korean Med Sci. 2007 Jun; 22(3): 463–469. Published online 2007 Jun 30. doi: 10.3346/jkms.2007.22.3.463
PMCID:
PMC2693639
AbstractArticlePDF–278K
17.
Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance
Jacques S Beckmann, Melissa Spencer
Neuromuscul Disord. Author manuscript; available in PMC 2009 Dec 1.
Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 913–921. Published online 2008 Oct 29. doi: 10.1016/j.nmd.2008.08.005
PMCID:
PMC2614824
AbstractArticlePDF–798K
18.
Screening of calpain‐3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
M Fanin, A C Nascimbeni, C Angelini
J Med Genet. 2007 Jan; 44(1): 38–43. doi: 10.1136/jmg.2006.044859
PMCID:
PMC2597906
AbstractArticlePDF–693K
19.
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
G Piluso, L Politano, S Aurino, M Fanin, E Ricci, V Ventriglia, A Belsito, A Totaro, V Saccone, H Topaloglu, A Nascimbeni, L Fulizio, A Broccolini, N Canki-Klain, L Comi, G Nigro, C Angelini, V Nigro
J Med Genet. 2005 Sep; 42(9): 686–693. doi: 10.1136/jmg.2004.028738
PMCID:
PMC1736133
SummaryPDF–101K
20.
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
V M Pratt, C E Jackson, D C Wallace, D S Gurley, A Feit, G L Feldman
Am J Hum Genet. 1997 Jul; 61(1): 231–233. doi: 10.1016/S0002-9297(07)64296-7
PMCID:
PMC1715865
SummaryPage BrowsePDF–661K

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