Recombinant Human Calpain-3 (CAPN3), partial

1. We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations. PMID: 28332615
2. This study demonstrates that a cluster of patients with Limb-Girdle Muscular Dystrophy Type 2A in a small Mexican village arises from a novel CAPN3 founder mutation. PMID: 28103310
3. Heterozygosity for c.643_663del21 in CAPN3 results in a myopathy resembling the recessive form. PMID: 27259757
4. Unrelated families with limb girdle muscular dystrophy shared common haplotypes with homozygote patterns in two families, and a compound heterozygote pattern in the third family. PMID: 27262448
5. Here, for the first time, we report a new variant in the CAPN3 gene that can be considered as a robust genetics factor causing limb-girdle muscular dystrophy type 2A disease. PMID: 27861222
6. Genetic analysis of CAPN3 gene by whole exome sequencing revealed five causative variants which had not been reported in the Iranian population before including a novel 6 bp deletion (c.795_800delCATTGA) and four previously reported mutations (c.1939G > T, c.2243G > A, c.2257delGinsAA, and c.2380 + 2T > G) PMID: 27020652
7. The allele frequency of CAPN3 gene mutation in limb-girdle muscular dystrophy patients was different in patients from Latvia and Lithuania. PMID: 27142102
8. Studies indicate that gene mutations causing muscle-specific calcium-activated neutral protease 3 protein (CAPN3) defects are responsible for limb-girdle muscular dystrophy type 2A (LGMD2A). PMID: 26363099
9. We analyzed 76 families affected with LGMD and identified 62 probands with mutations in the CANP3 gene. C.550delA was the most common mutation identified, being found in 78% of the LGMD2A families PMID: 26484845
10. We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy. PMID: 26632398
11. Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. PMID: 25877298
12. Calpain-3 over-expression induces p53 activation and redox imbalance in melanoma A375 cells. PMID: 25658320
13. Phosphorylated CAPN3 is involved in the pathology of limb-girdle muscular dystrophy type 2A through defects in myofibril integrity and/or signaling pathways. PMID: 25252031
14. results provide evidence that WT CAPN3 can be formed by the iMOC of two different complementary CAPN3 mutants PMID: 25512505
15. In LGMD2A muscles the activation of the atrophy programme appeared to depend mainly upon induction of the ubiquitin-proteasome system PMID: 23414389
16. a heterozygous deletion of the entire CAPN3 gene was found in a patients with Limb-girdle muscular dystrophy type 2A PMID: 24715573
17. The results indicate that PDGF-C upregulation and calpain-3 downregulation are involved in the aggressiveness of malignant melanoma and suggest that modulators of these proteins PMID: 24126726
18. Suppression of transgenic CAPN3 expression in cardiac tissue prevents cardiac toxicity in a model of limb-girdle muscular dystrophy. PMID: 23908349
19. Authors found that PLEIAD also interacts with CTBP1 (C-terminal binding protein 1), a transcriptional co-regulator, and CTBP1 is proteolyzed in COS7 cells expressing CAPN3. PMID: 23707407
20. Lobulated fibers were often encountered in the muscle biopsies of LGMD2A patients. Such fibers were more frequent in patients with 550delA mutation PMID: 23821418
21. The findings further confirm mutations in CAPN3 as a genetic cause of eosinophilic myositis and highlight eosinophilic infiltration as an early component (or event) of primary calpainopathy. PMID: 21204801
22. Researchers identified 2 founder mutations in CAPN3, a missense (c.2338G>C; p.D780H) and a splice-site (c.2099-1G>T) mutation, on 2 different haplotype backgrounds in unrelated limb-girdle muscular dystrophy in the Indian Agarwal community. PMID: 23666804
23. An intronic mutation in CAPN3 causes severe Limb girdle muscular dystrophy 2A in a large inbred family belonging to a genetic isolate in the Italian Alps. PMID: 22486197
24. All 18 mutations of Chinese LGMD2A patients are distributed along the entire CAPN3 gene; 11 of the mutations are novel, including 4 missense mutations, 5 deletions, and 2 splicing mutations. PMID: 22926650
25. Alterations in CAPN3 and nuclear factor-kappaB signaling contribute to muscle mass loss in congenital muscular dystrophy. PMID: 22975586
26. Evidence from patients with limb girdle muscular dystrophies suggests that calpain 3 is needed for the regenerative process. PMID: 22443334
27. This is the first report on a potential pathogenic CAPN3 gene mutation resulting from an Alu insertion. PMID: 22158424
28. In resting human skeletal muscle, the majority (87%) of calpain-3 was present in myofibrillar fractions. PMID: 21836041
29. In our series of patients, six out of the 13 patients (P9-P14) carried mutations in genes not related to facioscapulohumeral muscular dystrophy, that is, CAPN3 and VCP PMID: 21984748
30. A homozygous transversion mutation in the CAPN3 gene confirms limb-girdle muscular dystrophy type 2A. PMID: 21386772
31. The benign phenotype observed in association with combined pG222R and pR748Q mutations suggests that limb-girdle muscular dystrophy type 2A may result from a compensatory effect of compound heterozygosity rather than the LGMD2A mutations themselves. PMID: 22006685
32. Data show that direct sequencing of CAPN3, encoding calpain-3, identified a homozygous deletion c.483delG (p.Ile162SerfsX17). PMID: 21172462
33. Limb-girdle muscular dystrophy patients carried a new splicing site mutation (c.1536+1G>T) in the CAPN3 gene, which leads to complete retention of intron 12 of the CAPN3 gene and total calpain3 deficiency. PMID: 20477750
34. 5 different intronic variants (one novel) in CAPN3 that bioinformatic tools predicted would affect RNA splicing, underwent comprehensive studies which were designed to prove they are disease-causing. PMID: 20635405
35. CARP and its regulator calpain 3 appear to occupy a central position in the important cell fate-governing NF-kappaB pathway in skeletal muscle PMID: 20860623
36. The major c.550delA mutation in the CAPN3 gene was identified in 70% of Russian patients. PMID: 20517216
37. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. PMID: 20634290
38. The findings suggest that mutation analysis of the CAPN3 cDNA should use skeletal muscle tissue as materials instead of peripheral blood. PMID: 20533264
39. calpain 3 participates in the establishment of the pool of reserve cells by decreasing the transcriptional activity of the key myogenic regulator MyoD via proteolysis independently of the ubiquitin-proteasome degradation pathway. PMID: 20139084
40. reduced expression of calpain 3 was associated with phenotypes related to obesity and insulin resistance PMID: 12075569
41. effects of type of mutation, amount of calpain in the muscle, gender and ethnicity of affected patients on clinical course (age of onset and ascertainment) were analysed PMID: 12461690
42. reaction analysis of calpain p94 autolysis and domains PMID: 12482600
43. The enzyme is preferentially expressed in B- and T-lymphocytes, whereas it is poorly expressed in natural killer cells and almost undetectable in polymorphonuclear cells. PMID: 12882647
44. The 550delA mutation was present on 76% of CAPN3 (calpain 3) chromosomes that led us to screen general population for this mutation PMID: 14981715
45. Insertion sequence 1 of p94 acts as internal autoinhibitory propeptide, blocking the active site of p94 from substrates and inhibitors. PMID: 15073171
46. Ten novel CAPN3 mutations found in concentrated in several exons in Muscular Dystrophies patients PMID: 15221789
47. This study found that three novel mutations of calpain 3 gene in limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). PMID: 15351423
48. Efficient and stable CAPN3 transgene expression in mouse muscle restores enzyme proteolytic activity without evident toxicity in a calpain 3-deficient mouse model of limb-girdle muscular dystrophy type 2A. PMID: 16290124
49. Thus, the proteolytic activity of the core of p94 and its deletion mutant lacking NS and IS1 was shown to be strictly Ca(2+)-dependent. We propose a two-stage model of activation of the proteolytic core of p94. PMID: 16533054
50. the importance of p94-connectin interaction in the control of p94 functions by regulating autolytic decay of p94 PMID: 16627476

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HGNC: 1480

OMIM: 114240

KEGG: hsa:825

STRING: 9606.ENSP00000380349

UniGene: Hs.143261