CAV3 Antibody

1. T78M cav-3 induces complex modifications in ion channel function that ultimately alter membrane excitability and thus generate a susceptible substrate that, in concert with other structural alterations and/or genetic mutations, may become arrhythmogenic. PMID: 28898996
2. Case series demonstrates that exercise intolerance, myalgia and rhabdomyolysis may be caused by CAV3 mutations and broadens phenotypic spectrum of caveolinopathies. Percussion-induced rapid muscle contractions were seen in 5 of 6 patients. A previously reported heterozygous mutation in CAV3 (p.T78M) and 3 novel variants (p.V14I, p.F41S, p.F54V) were identified. >50% reduction of caveolin-3 in 5 patients vs controls. PMID: 27312022
3. our study indicates that TASK-1 is functionally regulated by caveolin-3, possibly via association with each other on the cell surface. These results point out a novel mechanism in the regulation of TASK-1. PMID: 28648645
4. The caveolin 3 G56S variant is not a clearly pathogenic mutation, but may influence cellular functions and morphologies resulting in an increased cellular vulnerability in terms of a modifying factor. PMID: 27739254
5. Our results indicate that HCN4 channel function is modulated by cav-3. LQTS-associated mutations of cav-3 differentially influence pacemaker current properties indicating a pathophysiological role in clinical manifestations. PMID: 28648120
6. This study demonstrated that the Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis. PMID: 27863830
7. Study characterized the secondary structure, dynamics, and topology of a lipidated full-length human Cav3 construct, demonstrated that the N-terminal domain undergoes a dramatic topological rearrangement in both micelles and vesicles that is reversibly mediated by pH PMID: 27276265
8. The Cav3 P104L mutation of limb girdle muscular dystrophy-1C leads to disordered glucose metabolism in muscle cells. PMID: 28232187
9. Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest Cav3 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles. PMID: 26859249
10. MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma. PMID: 26086601
11. This study demonstrated that cav3 mutation in stinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation in Greece. PMID: 26185955
12. In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes. PMID: 25757662
13. We identified three novel sequence variations (c.183C>G, p.S61R; c.220C>A, p.R74S; c.220C>T, p.R74C) and found evidence that one was associated with hypercreatine kinase-emia PMID: 25630502
14. our results indicate that inhibition of Cav3 currents by 5,6-epoxyeicosatrienoic acid is an important mechanism controlling the vascular tone. PMID: 24327205
15. detrimental effect of Cav-3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death. PMID: 24917393
16. The caveolin-3:p.T78M did not exhibit a long-QT syndrome phenotype. PMID: 24021552
17. Cav3 is an important negative regulator for cardiac late sodium cutrrent via nNOS dependent direct S-nitrosylation of SCN5A. PMID: 23541953
18. data show a developmental change in HCN4-Cav3 association in human embryonic stem cell-derived cardiomyocytes. Cav3 expression and its association with ionic channels likely represent a crucial step of cardiac maturation PMID: 23311301
19. A very high prevalence of previously SIDS-associated variants was identified in exome data from population studies. PMID: 23465283
20. Kir2.1 loss of function is additive to the increase in late sodium current, prolonging repolarization and leading to arrhythmia generation in Cav3-mediated long qt syndrome 9. PMID: 23640888
21. These results strongly suggest that cav3 possesses direct interaction with KCa1.1, presumably at the same domain for cav1 binding. PMID: 23237801
22. Multiple caveolin-3 nonamers bind to a single RyR1 homotetramer. PMID: 23071107
23. hERG expression in the plasma membrane is regulated by Cav3 via Nedd4-2 PMID: 22879586
24. Stromal caveolin-3 expression were more frequent in anaplastic carcinoma and diffuse sclerosing variant of papillary carcinoma compared to conventional papillary thyroid carcinoma. PMID: 22236542
25. Detailed analysis of the voltage-dependence of Ca2+ transients revealed a significant shift of Ca2+ release activation to higher depolarization levels in CAV3 mutated cells. PMID: 21294223
26. Caveolin 3 expression was decreased in an animal model of left ventricular dysfunction and heart failure. PMID: 21362533
27. Cav-3 is SUMOylated in a manner that is enhanced by the SUMO E3 ligase PIASy; Cav-3 SUMOylation in the mechanisms for beta(2)AR but not beta(1)AR desensitization PMID: 21362625
28. -3 defects lead to four distinct skeletal muscle disease phenotypes: limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia[review] PMID: 21496630
29. functional modulation of the Ca(v)3.2 channels by Cav-3 is important for understanding the compartmentalized regulation of Ca(2+) signaling during normal and pathological processes. PMID: 21084288
30. Results describe differential effects of the R26Q and P28L caveolin-3 mutants on growth factor signaling. PMID: 20472890
31. Impaired muscle contraction in gallbladders with cholesterol stones is due to high caveolar levels of cholesterol that inhibits CAV-3 generation; cholesterol increases the caveolar sequestration of CAV-3 and CCK-1R. PMID: 20558763
32. Genetic analysis revealed a CAV3 c.G136A transition resulting in an A46T missense mutation in a family with rippling muscle disease. PMID: 20229577
33. Caveolin-3 (Cav3) is a new Cx43-interacting protein. PMID: 19544087
34. Review addresses caveolin-3 biological functions in muscle cells and describes the muscle and heart disease phenotypes associated with caveolin-3 mutations[REVIEW] PMID: 19584897
35. A heterozygous 80 G-->A substitution in the caveolin-3 gene is associated with sporadic distal myopathy PMID: 11805270
36. A naturally occurring caveolin-3 mutation can inhibit signaling involving cholesterol-sensitive raft domains. PMID: 11884389
37. P28L mutation in the CAV-3 gene and the consequent caveolin-3 deficiency is associated with elevated serum kreatine kinase levels. PMID: 12082049
38. Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of peptides corresponding to the scaffolding domain of caveolin-3. PMID: 12387816
39. caveolin-3 may play a role in lamellar granule assembly, trafficking, and/or function. PMID: 12648214
40. severe form of rippling muscle disease associated with homozygous CAV3 mutations. PMID: 12666119
41. A haploinsufficiency model is proposed in which reduced levels of wild-type caveolin-3, although not rendered dysfunctional due to the caveolin-3 R26Q mutant protein, are insufficient for normal muscle cell function. PMID: 12839838
42. Adenovirus-mediated overexpression of human caveolin-3 inhibits hypertrophic responses in rat cardiomyocytes. PMID: 12847114
43. An R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyper-CK-emia, rippling muscle disease, distal myopathy, and limb-girdle musclar dystrophy 1C. PMID: 12939441
44. CD36 colocalizes with caveolin-3, suggesting that caveolae may regulate cellular fatty acid uptake by CD36. CD36 expression is higher in type 1 compared with type 2 fibers, whereas caveolin-3 expression is significantly higher in type 2 than in type 1 PMID: 14729862
45. the importance of dysferlin-caveolin 3 relationship for skeletal muscle integrity PMID: 14749532
46. Review. Caveolin-3 mutations can result in four distinct, sometimes overlapping, muscle disease phenotypes: limb girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia. PMID: 14981167
47. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres.Mutational analysis identified a novel heterozygous mutation and generating a Val-->Met change at codon 57 of the amino acid chain. PMID: 15099591
48. demonstrate that Cav-3 is specifically expressed in human cardiac and skeletal myocytes, with high specificity and relatively high sensitivity (88%) for tumors with skeletal muscle differentiation PMID: 16082247
49. The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene. PMID: 16247063
50. The co-localization of Cav-3 with COX-2 in the caveolae suggests that the caveolins might play an important role for regulating the function of COX-2. PMID: 16479074

Show More

Hide All

HGNC: 1529

OMIM: 123320

KEGG: hsa:859

STRING: 9606.ENSP00000341940

UniGene: Hs.98303