Genomes and Genes
Gene Symbol: caveolin 3
Description: caveolin 3
Alias: LGMD1C, LQT9, VIP-21, VIP21, caveolin-3, M-caveolin, cavolin 3
Products: caveolin 3
Publications106 found, 100 shown here
- Fischer D, Schroers A, Blumcke I, Urbach H, Zerres K, Mortier W, et al. Consequences of a novel caveolin-3 mutation in a large German family. Ann Neurol. 2003;53:233-41 pubmed..Different clinical phenotypes in caveolinopathies may be attributed to so far unidentified modifying factors/genes in the individual genetic background of affected patients. ..
- Kubisch C, Schoser B, von Düring M, Betz R, Goebel H, Zahn S, et al. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol. 2003;53:512-20 pubmed..In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3...
- Smythe G, Eby J, Disatnik M, Rando T. A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. J Cell Sci. 2003;116:4739-49 pubmed
- Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2004;313:178-84 pubmed..It was observed that the Thr63Ser mutation reduced the cell surface expression of caveolin-3, albeit the change was mild as compared with the LGMD mutations. These observations suggest that HCM is a clinical spectrum of CAV3 mutations. ..
- Cronk L, Ye B, Kaku T, Tester D, Vatta M, Makielski J, et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm. 2007;4:161-6 pubmed..This study provides the first molecular and functional evidence implicating CAV3 as a pathogenic basis of SIDS. The LQT3-like phenotype of increased late sodium current supports an arrhythmogenic mechanism for some cases of SIDS. ..
- Gazzerro E, Sotgia F, Bruno C, Lisanti M, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010;18:137-45 pubmed publisher..This review will address caveolin-3 biological functions in muscle cells and will describe the muscle and heart disease phenotypes associated with caveolin-3 mutations. ..
- Catteruccia M, Sanna T, Santorelli F, Tessa A, Di Giacopo R, Sauchelli D, et al. Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. Neuromuscul Disord. 2009;19:779-83 pubmed publisher..We suggest that cardiac dysfunction in myopathic patients with CAV3 mutations may be underestimated and recommend a more thorough evaluation for the presence of cardiomyopathy and potentially lethal arrhythmias. ..
- Markandeya Y, Fahey J, Pluteanu F, Cribbs L, Balijepalli R. Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels. J Biol Chem. 2011;286:2433-44 pubmed publisher..Our findings on 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. ..
- Cheng J, Valdivia C, Vaidyanathan R, Balijepalli R, Ackerman M, Makielski J. Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A. J Mol Cell Cardiol. 2013;61:102-10 pubmed publisherMutations in CAV3-encoding caveolin-3 (Cav3) have been implicated in type 9 long QT syndrome (LQT9) and sudden infant death syndrome (SIDS)...
- Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel H, Nix W, et al. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology. 2001;57:2273-7 pubmed..These data confirm that RMD is caused by CAV3 mutations. Moreover, there is evidence that CAV3 mutations may also be found in patients without a positive family history of RMD. ..
- Sotgia F, Woodman S, Bonuccelli G, Capozza F, Minetti C, Scherer P, et al. Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. Am J Physiol Cell Physiol. 2003;285:C1150-60 pubmed..We propose a haploinsufficiency model 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. ..
- Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, et al. Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. Lab Invest. 2008;88:275-83 pubmed publisher..In conclusion, CAV3 T78M and T78K mutations lead to distinct disorders showing different clinical features and inheritance, and displaying distinct phenotypes in vitro. ..
- Ibarretxe D, Pellejà J, Ortiz N, Masana L. Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association. J Clin Lipidol. 2017;11:1280-1283 pubmed publisher..Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified...
- Zhu B, Rippe C, Thi Hien T, Zeng J, Albinsson S, Stenkula K, et al. Similar regulatory mechanisms of caveolins and cavins by myocardin family coactivators in arterial and bladder smooth muscle. PLoS ONE. 2017;12:e0176759 pubmed publisher..In all, these findings further support the view that myocardin family coactivators are important transcriptional drivers of caveolins and cavins in smooth muscle. ..
- Podemska Jedrzejczak Z, Malinska A, Sujka Kordowska P, Nowicki M, Puślecki M, Jemielity M, et al. Vascular restenosis in coronary artery bypass grafting might be associated with VEGF-C/VEGFR-3 signaling pathway. Heart Vessels. 2018;33:1106-1120 pubmed publisher..CAV2 protein expression in SMCs of ITA grafts indicated the risk of early graft failure both in double-vessel and triple-vessel CAD subjects. ..
- Talukder M, Preda M, Ryzhova L, Prudovsky I, PINZ I. Heterozygous caveolin-3 mice show increased susceptibility to palmitate-induced insulin resistance. Physiol Rep. 2016;4: pubmed publisher..Thus, these findings suggest that loss ofCAV3 interferes with downstream insulin signaling and lipid uptake, implicatingCAV3 as a regulator of theIRand regulator of lipid uptake in the heart. ..
- Buckley M, O Halloran K, Rae M, Dinan T, O Malley D. Modulation of enteric neurons by interleukin-6 and corticotropin-releasing factor contributes to visceral hypersensitivity and altered colonic motility in a rat model of irritable bowel syndrome. J Physiol. 2014;592:5235-50 pubmed publisher..Moreover, combined targeting of peripheral IL-6 and CRF1 receptors is effective in alleviating IBS-like symptoms in the WKY rat. Thus, crosstalk between stress and immune factors during IBS flares may underlie symptom exacerbation. ..
- Trappanese D, Liu Y, McCormick R, Cannavo A, Nanayakkara G, Baskharoun M, et al. Chronic Î²1-adrenergic blockade enhances myocardial Î²3-adrenergic coupling with nitric oxide-cGMP signaling in a canine model of chronic volume overload: new insight into mechanisms of cardiac benefit with selective Î²1-blocker therapy. Basic Res Cardiol. 2015;110:456 pubmed publisher..Our canine study suggests that microdomain-targeted enhancement of myocardial Î²3AR/NO-cGMP signaling may explain, in part, Î²1-adrenergic antagonist-mediated preservation of cardiac function in the volume-overloaded heart. ..
- Felizola S, Katsu K, Ise K, Nakamura Y, Arai Y, Satoh F, et al. Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human Tissues. Endocr Pathol. 2015;26:119-28 pubmed publisher..023; Râ€‰=â€‰0.31) and CaV3.2 (Pâ€‰=â€‰0.0019; Râ€‰=â€‰0.42). Based on our data, we hypothesize a possible role for VPREB3 in aldosterone biosynthesis, and present ideas for future functional studies. ..
- Qiu J, Bosch M, Meza C, Navarro U, Nestor C, Wagner E, et al. Estradiol Protects Proopiomelanocortin Neurons against Insulin Resistance. Endocrinology. 2017;: pubmed publisher..Therefore, E2 protects female POMC neurons from insulin resistance by enhancing POMC neuronal excitability and the coupling of insulin receptor to TRPC5 channel activation...
- Pfeiffer E, Wright A, Edwards A, Stowe J, McNall K, Tan J, et al. Caveolae in ventricular myocytes are required for stretch-dependent conduction slowing. J Mol Cell Cardiol. 2014;76:265-74 pubmed publisher..Recruitment of caveolae to the sarcolemma during physiologic cardiomyocyte stretch slows ventricular action potential propagation by increasing cell membrane capacitance. ..
- Biederer C, Ries S, Drobnik W, Schmitz G. Molecular cloning of human caveolin 3. Biochim Biophys Acta. 1998;1406:5-9 pubmedWe isolated a full-length cDNA encoding human caveolin 3, which is 72% and 59% homologous to human caveolin 1 and caveolin 2, respectively...
- Frandsen R, Salomonsson M, Hansen P, Jensen L, Braunstein T, Holstein Rathlou N, et al. No apparent role for T-type CaÂ²âº channels in renal autoregulation. Pflugers Arch. 2016;468:541-50 pubmed publisher..1 or treatment with low concentrations of mibefradil does not affect renal autoregulation. Thus, T-type calcium channels are not involved in renal autoregulation in response to acute increases in RPP. ..
- Wen X, Xu S, Zhang Q, Li X, Liang H, Yang C, et al. Inhibitory gene expression of the Cav3.1 T-type calcium channel to improve neuronal injury induced by lidocaine hydrochloride. Eur J Pharmacol. 2016;775:43-9 pubmed publisher..The results showed that Cav3.1 may be involved in neuronal injury induced by lidocaine hydrochloride and that p38 MAPK phosphorylation was reduced upon Cav3.1 gene silencing. ..
- Huang D, Liang C, Zhang F, Men H, Du X, Gamper N, et al. Inflammatory mediator bradykinin increases population of sensory neurons expressing functional T-type Ca(2+) channels. Biochem Biophys Res Commun. 2016;473:396-402 pubmed publisher..2 channels, particularly in neurons that do not display measurable LVA currents under control conditions. ..
- Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000;54:1373-6 pubmedMutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C)...
- Uehara K, Miyoshi M. Localization of caveolin-3 in the sinus endothelial cells of the rat spleen. Cell Tissue Res. 2002;307:329-36 pubmed..It is speculated that caveolae in sinus endothelial cells play an important role in the constriction of stress fibers. ..
- Venema V, Ju H, Zou R, Venema R. Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain. J Biol Chem. 1997;272:28187-90 pubmed..Inhibitory interactions mediated by two different caveolin domains may thus be a general feature of enzyme docking to caveolin proteins in plasmalemmal caveolae. ..
- Yamamoto M, Toya Y, Schwencke C, Lisanti M, Myers M, Ishikawa Y. Caveolin is an activator of insulin receptor signaling. J Biol Chem. 1998;273:26962-8 pubmed..Thus, we have identified a novel mechanism by which the insulin receptor is bound and activated by specific caveolin subtypes. Furthermore, these data define a new role for caveolin as an activator of signaling. ..
- Kato T, Iwasaki Y, Duker G, Fjellström O, Giordanetto F, Sundqvist M, et al. Inefficacy of a highly selective T-type calcium channel blocker in preventing atrial fibrillation related remodeling. J Cardiovasc Electrophysiol. 2014;25:531-536 pubmed publisher..Thus, prevention of atrial electrophysiological remodeling by mibefradil cannot be attributed exclusively to I(CaT) blockade. These results indicate that I(CaT) inhibition is not likely to be a useful approach for AF therapy. ..
- Harraz O, Brett S, Zechariah A, Romero M, Puglisi J, Wilson S, et al. Genetic ablation of CaV3.2 channels enhances the arterial myogenic response by modulating the RyR-BKCa axis. Arterioscler Thromb Vasc Biol. 2015;35:1843-51 pubmed publisher..2(-/-) and wild-type animals were similar. Overall, our findings establish a negative feedback mechanism of the myogenic response in which CaV3.2 channel modulates downstream ryanodine receptor-BKCa to hyperpolarize and relax arteries. ..
- Sakkaki S, Gangarossa G, Lerat B, FranÃ§on D, Forichon L, Chemin J, et al. Blockade of T-type calcium channels prevents tonic-clonic seizures in a maximal electroshock seizure model. Neuropharmacology. 2016;101:320-9 pubmed publisher..Overall, our data indicate that TTA-A2 is a potent anticonvulsant and that the Cav3.1 isoform plays a prominent role in mediating TTA-A2 tonic seizure protection. ..
- Sotgia F, Minetti C, Lisanti M. Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. FEBS Lett. 1999;452:177-80 pubmed..As 3p-syndrome is characterized by cardiac septal defects and caveolin-3 is expressed primarily in the heart and skeletal muscle, caveolin-3 is a candidate gene that may be deleted in 3p-syndrome. ..
- Carozzi A, Roy S, Morrow I, Pol A, Wyse B, Clyde Smith J, et al. Inhibition of lipid raft-dependent signaling by a dystrophy-associated mutant of caveolin-3. J Biol Chem. 2002;277:17944-9 pubmed..Thus, we have demonstrated that a naturally occurring caveolin-3 mutation can inhibit signaling involving cholesterol-sensitive raft domains. ..
- Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi Y, et al. Two novel CAV3 gene mutations in Japanese families. Neuromuscul Disord. 2004;14:810-4 pubmed..Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations. ..
- Feiner E, Chung P, Jasmin J, Zhang J, Whitaker Menezes D, Myers V, et al. Left ventricular dysfunction in murine models of heart failure and in failing human heart is associated with a selective decrease in the expression of caveolin-3. J Card Fail. 2011;17:253-63 pubmed publisher..These results suggest a relationship between left ventricular dysfunction and caveolin-3 levels and suggest that caveolin-3 may provide a novel target for heart failure therapy. ..
- Fusco C, Micale L, Egorov M, Monti M, D Addetta E, Augello B, et al. The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome. PLoS ONE. 2012;7:e40440 pubmed publisher..We speculate that when the proteasome activity is impaired, TRIM50 fails to drive its substrates to the proteasome-mediated degradation, and promotes their storage in the aggresome for successive clearance...
- Fukami K, Sekiguchi F, Yasukawa M, Asano E, Kasamatsu R, Ueda M, et al. Functional upregulation of the H2S/Cav3.2 channel pathway accelerates secretory function in neuroendocrine-differentiated human prostate cancer cells. Biochem Pharmacol. 2015;97:300-9 pubmed publisher..2, leading to the elevated secretory functions. The overexpression of Cav3.2 appears to involve upregulation of Egr-1 and downregulation of REST. ..
- Pan Y, Li B, Wang J, Li X. Rosuvastatin Alleviates Type 2 Diabetic Atrial Structural and Calcium Channel Remodeling. J Cardiovasc Pharmacol. 2016;67:57-67 pubmed publisher..In conclusion, long-term RSV therapy can alleviate structural and calcium channel remodeling in the type 2 diabetic rat atrium. ..
- Tonegawa K, Otsuka W, Kumagai S, Matsunami S, Hayamizu N, Tanaka S, et al. Caveolae-specific activation loop between CaMKII and L-type Ca2+ channel aggravates cardiac hypertrophy in ?1-adrenergic stimulation. Am J Physiol Heart Circ Physiol. 2017;312:H501-H514 pubmed publisher..This is the first study to demonstrate caveolae-specific activation of CaMKII signaling in cardiac hypertrophy induced by ?1-adrenergic stimulation using an originally developed tool. ..
- Lin S, Wang B, Zhang F, Fei Y, Gu J, Li J, et al. T-type calcium channels, but not Cav3.2, in the peripheral sensory afferents are involved in acute itch in mice. Biochem Biophys Res Commun. 2017;487:801-806 pubmed publisher..1 or Cav3.3, but not Cav3.2 channel, have an important role in acute itch processing, and their distinctive roles in modulating acute itch are worthy of further investigation. ..
- Park S, Min S, Kang H, Lee J. Differential zinc permeation and blockade of L-type Ca2+ channel isoforms Cav1.2 and Cav1.3. Biochim Biophys Acta. 2015;1848:2092-100 pubmed publisher..2. In overall, we provide evidence that Cav1.2 and Cav1.3 isoforms are capable of potentially functioning as zinc permeation routes, through which zinc entry can be differentially augmented by mild acidifications. ..
- Marchetti C, Ribulla S, Magnelli V, Patrone M, Burlando B. Resveratrol induces intracellular Ca(2+) rise via T-type Ca(2+) channels in a mesothelioma cell line. Life Sci. 2016;148:125-31 pubmed publisher..Res induces Ca(2+) influx, possibly mediated through T-type Ca(2+) channels, with significant selectivity towards mesothelioma cells, suggesting a possible use as an adjuvant to chemotherapy drugs for mesothelioma clinical treatment. ..
- Garcia J, Bagwell J, Njaine B, Norman J, Levic D, Wopat S, et al. Sheath Cell Invasion and Trans-differentiation Repair Mechanical Damage Caused by Loss of Caveolae in the Zebrafish Notochord. Curr Biol. 2017;27:1982-1989.e3 pubmed publisher..This work reveals a novel structural role for caveolae in vertebrates and provides unique insights into the mechanisms that safeguard notochord and spine development. ..
- Chemin J, Taiakina V, Monteil A, Piazza M, Guan W, Stephens R, et al. Calmodulin regulates Cav3 T-type channels at their gating brake. J Biol Chem. 2017;292:20010-20031 pubmed publisher..Our findings may have implications for arrhythmia disorders arising from mutations in the gating brake or CaM. ..
- Ozaki T, Matsuoka J, Tsubota M, Tomita S, Sekiguchi F, Minami T, et al. Zinc deficiency promotes cystitis-related bladder pain by enhancing function and expression of Cav3.2 in mice. Toxicology. 2018;393:102-112 pubmed publisher..2 in nociceptors, suggesting a novel therapeutic avenue for treatment of bladder pain, such as zinc supplementation. ..
- Falcon D, González Montelongo R, Sánchez de Rojas de Pedro E, Ordonez A, Urena J, Castellano A. Dexamethasone-induced upregulation of CaV3.2 T-type Ca2+ channels in rat cardiac myocytes. J Steroid Biochem Mol Biol. 2018;178:193-202 pubmed publisher..Importantly, upregulation of the CaV3.2 channel is also observed in vitro in adult rat ventricular myocytes, and in vivo in a rat model of excess of glucocorticoids. ..
- Weiss N, Couchoux H, Legrand C, Berthier C, Allard B, Jacquemond V. Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. Pflugers Arch. 2008;457:361-75 pubmed publisher
- Wen X, Zhong J, Zhang T, Lai X, Liu H, Wang H, et al. [Role of calmodulin-dependent protein kinase II in bupivacaine hydrochloride-induced injury of SH-SY5Y cells]. Nan Fang Yi Ke Da Xue Xue Bao. 2015;35:1133-6 pubmed..All these changes were partly reversed by treatment of the cells with 1 mmol/L KN93. CaMKII may play a role in bupivacaine hydrochloride-induced SH-SY5Y cells injury, which is related with upregulated Cav3.1 protein expression. ..
- Yang W, Li Q, Wang S, Gao F, Qian W, Li F, et al. Cannabinoid receptor agonists modulate calcium channels in rat retinal MÃ¼ller cells. Neuroscience. 2016;313:213-24 pubmed publisher..The existence of receptor-dependent and -independent mechanisms suggests that cannabinoids may modulate MÃ¼ller cell functions through multiple pathways. ..
- Terada Y, Tsubota M, Sugo H, Wakitani K, Sekiguchi F, Wada K, et al. Tacrolimus Triggers Transient Receptor Potential Vanilloid-1-Dependent Relapse of Pancreatitis-Related Pain in Mice. Pharmacology. 2017;99:281-285 pubmed publisher..Thus, tacrolimus appears to cause the TRPV1-dependent relapse of pancreatitis-related pain, suggesting the involvement of calcineurin in the termination of pancreatic pain. ..
- Bernal Sierra Y, Haseleu J, Kozlenkov A, Begay V, Lewin G. Genetic Tracing of Cav3.2 T-Type Calcium Channel Expression in the Peripheral Nervous System. Front Mol Neurosci. 2017;10:70 pubmed publisher..A second population of nociceptive sensory neurons expressing the Cav3.2 gene was found to be positive for the calcitonin-gene related peptide but these neurons are deep tissue nociceptors that do not innervate the skin. ..
- Sankhe S, Manousakidi S, Antigny F, Arthur Ataam J, Bentebbal S, Ruchon Y, et al. T-type Ca2+ channels elicit pro-proliferative and anti-apoptotic responses through impaired PP2A/Akt1 signaling in PASMCs from patients with pulmonary arterial hypertension. Biochim Biophys Acta Mol Cell Res. 2017;1864:1631-1641 pubmed publisher
- Bossuyt J, Taylor B, James Kracke M, Hale C. Evidence for cardiac sodium-calcium exchanger association with caveolin-3. FEBS Lett. 2002;511:113-7 pubmed..Cholesterol chelation in vesicles decreased NCX1 transport activity and caveolin-3 co-precipitation. NCX1 may play a role in caveolar transmembrane signaling in addition to its role in excitation-contraction coupling. ..
- Capanni C, Sabatelli P, Mattioli E, Ognibene A, Columbaro M, Lattanzi G, et al. Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Exp Mol Med. 2003;35:538-44 pubmed..studies have reported that dysferlin is implicated in membrane repair mechanism and coimmunoprecipitates with caveolin 3 in human skeletal muscle...
- Fine S, Lisanti M, Argani P, Li M. Caveolin-3 is a sensitive and specific marker for rhabdomyosarcoma. Appl Immunohistochem Mol Morphol. 2005;13:231-6 pubmed
- Ueyama H, Horinouchi H, Obayashi K, Hashinaga M, Okazaki T, Kumamoto T. Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. Neuromuscul Disord. 2007;17:558-61 pubmed..The patient also had extraocular muscle paresis showing atrophy of the extraocular muscles on orbital MRI. The involvement of the extraocular muscles of patients with caveolinopathy is discussed. ..
- Berta A, Kiss A, Kemeny Beke A, Lukats A, Szabó A, Szel A. Different caveolin isoforms in the retina of melanoma malignum affected human eye. Mol Vis. 2007;13:881-6 pubmed..Since the retina contains a number of different neuronal and glial cell types, the caveolin expression of these cells can no longer be a matter of dispute. ..
- Lee W, Choi J, Cha S. Co-localization and interaction of human organic anion transporter 4 with caveolin-1 in primary cultured human placental trophoblasts. Exp Mol Med. 2008;40:505-13 pubmed..These findings suggest that hOAT4 and caveolin-1 share a cellular expression in the plasma membrane and caveolin-1 up-regulates the organic anionic compound uptake by hOAT4 under the normal physiological condition. ..
- Kim H, Kim H, Kim Y, Park S, Harris R, Kim C. Caveolin, GLUT4 and insulin receptor protein content in human arm and leg muscles. Eur J Appl Physiol. 2009;106:173-9 pubmed publisher..Although Cav-3, GLUT4, and IR-beta were unchanged from the resting levels at the end of both exercise trials in DEL, all measures, including Cav-1, increased after the 1,500 m swim trial in VAS. ..
- Liu L, Li Y, Lin J, Liang Q, Sheng X, Wu J, et al. Connexin43 interacts with Caveolin-3 in the heart. Mol Biol Rep. 2010;37:1685-91 pubmed publisher..This interaction was confirmed by co-immunoprecipitation and co-localization experiments. CX43 interacts with Cav3, suggesting that Cav3 may participate in the functional regulation of GJs. ..
- Wen X, Liang H, Li H, Ou W, Wang H, Liu H, et al. In vitro neurotoxicity by ropivacaine is reduced by silencing Cav3.3 T-type calcium subunits in neonatal rat sensory neurons. Artif Cells Nanomed Biotechnol. 2017;:1-8 pubmed publisher..Cav3.3 can regulate CaMKII? mRNA and protein expression. In conclusion, Cav3.3 regulated CaMKII? in DRG, which was involved with the cell injury induced by ropivacaine hydrochloride...
- Li S, Okamoto T, Chun M, Sargiacomo M, Casanova J, Hansen S, et al. Evidence for a regulated interaction between heterotrimeric G proteins and caveolin. J Biol Chem. 1995;270:15693-701 pubmed..These data suggest that caveolin could function to negatively regulate the activation state of heterotrimeric G proteins. ..
- Jagannadham M, Sharadadevi A, Nagaraj R. Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of synthetic peptides corresponding to the scaffolding domain of caveolin-3. Biochem Biophys Res Commun. 2002;298:203-6 pubmed..It is likely that the structural changes arising as a result of TFT deletion distrupt oligomerization and consequently mistargeting and degradation. ..
- Dotti M, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A. A new missense mutation in caveolin-3 gene causes rippling muscle disease. J Neurol Sci. 2006;243:61-4 pubmed..We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene. ..
- Suzuki Y, Yamamura H, Ohya S, Imaizumi Y. Direct molecular interaction of caveolin-3 with KCa1.1 channel in living HEK293 cell expression system. Biochem Biophys Res Commun. 2013;430:1169-74 pubmed publisher..1, presumably at the same domain for cav1 binding. This interaction regulates KCa1.1 expression to cell surface and the formation of functional molecular complex in caveolae in living cells. ..
- Andreasen C, Refsgaard L, Nielsen J, Sajadieh A, Winkel B, Tfelt Hansen J, et al. Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. Can J Cardiol. 2013;29:1104-9 pubmed publisher..Our findings indicate that the suggested disease-causing role of some of these variants is questionable. A cautious interpretation of these variants must be made when found in SIDS victims. ..
- Kim J, Schlebach J, Lu Z, Peng D, Reasoner K, Sanders C. A pH-Mediated Topological Switch within the N-Terminal Domain of Human Caveolin-3. Biophys J. 2016;110:2475-2485 pubmed publisher..These results provide insight into the structure of Cav3 and set the stage for mechanistic investigations of the effects of pathogenic mutations. ..
- Kang C, Hernandez V, Hu K. Functional interaction of the two-pore domain potassium channel TASK-1 and caveolin-3. Biochim Biophys Acta Mol Cell Res. 2017;1864:1537-1544 pubmed publisher..In summary, 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. ..
- El Alaoui C, Chemin J, Fechtali T, Lory P. Modulation of T-type Ca2+ channels by Lavender and Rosemary extracts. PLoS ONE. 2017;12:e0186864 pubmed publisher..Taken together, our findings reveal that TTCCs are a molecular target of the Lavender and Rosemary compounds, suggesting that inhibition of TTCCs could contribute to the anxiolytic and the neuroprotective effects of these plants...
- Alias L, Gallano P, Moreno D, Pujol R, Martínez Matos J, Baiget M, et al. A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. Neuromuscul Disord. 2004;14:321-4 pubmed..This is the second mutation in the CAV-3 gene associated with familial isolated hyperCKaemia. ..
- Madrid R, Kubisch C, Hays A. Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. Neurology. 2005;65:1301-3 pubmed..Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed. ..
- González Pérez P, Gallano P, González Quereda L, Rivas Infante E, Teijeira S, Navarro C, et al. Phenotypic variability in a Spanish family with a Caveolin-3 mutation. J Neurol Sci. 2009;276:95-8 pubmed publisher..Signs of muscle hyperexcitability and hyperckemia at early ages may predict the development of a late onset autosomal dominant hand-involved myopathy associated to Cav-3 mutation in the family reported herein. ..
- Brauers E, Roos A, Kollipara L, Zahedi R, Beckmann A, Mohanadas N, et al. The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis. Proteomics Clin Appl. 2017;11: pubmed publisher..Results of our studies moreover improve the current understanding of (genetic) causes of myopathic disorders classified as caveolinopathies. ..
- Shang L, Chen T, Deng Y, Huang Y, Huang Y, Xian J, et al. Caveolin-3 promotes glycometabolism, growth and proliferation in muscle cells. PLoS ONE. 2017;12:e0189004 pubmed publisher..CAV3 protein has a physiological role in glycometabolism, growth and proliferation, independent of insulin stimulation. ..
- Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob E, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet. 2000;9:2335-40 pubmed
- Hagiwara Y, Sasaoka T, Araishi K, Imamura M, Yorifuji H, Nonaka I, et al. Caveolin-3 deficiency causes muscle degeneration in mice. Hum Mol Genet. 2000;9:3047-54 pubmed..gene, localized at 3p25, have been reported to be involved in the pathogenesis of limb-girdle muscular dystrophy (LGMD1C or caveolinopathy) with mild clinical symptoms, inherited through an autosomal dominant form of genetic ..
- Minamisawa S, Oshikawa J, Takeshima H, Hoshijima M, Wang Y, Chien K, et al. Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies. Biochem Biophys Res Commun. 2004;325:852-6 pubmed..The expression levels of JP-2 may be associated with the development of T-tubules and impaired Ca(2+)-induced Ca(2+) release in the heart. ..
- Lorenzoni P, Scola R, Vieira N, Vainzof M, Carsten A, Werneck L. A novel missense mutation in the caveolin-3 gene in rippling muscle disease. Muscle Nerve. 2007;36:258-60 pubmed..Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene. We associated this novel mutation with RMD. ..
- Bae J, Ki C, Kim J, Suh Y, Park M, Kim B, et al. A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease. J Neurol Sci. 2007;260:275-8 pubmed..Further analysis of his family members showed that his mother and elder sister also have the same mutation. To the best of our knowledge, this is the first report of genetically confirmed RMD in Korea. ..
- Cong P, Pricolo V, Biancani P, Behar J. Effects of cholesterol on CCK-1 receptors and caveolin-3 proteins recycling in human gallbladder muscle. Am J Physiol Gastrointest Liver Physiol. 2010;299:G742-50 pubmed publisher..Caveolar cholesterol increases the caveolar sequestration of CAV-3 and CCK-1R caused by their reduced recycling to the PM. ..
- Cazade M, Bidaud I, Hansen P, Lory P, Chemin J. 5,6-EET potently inhibits T-type calcium channels: implication in the regulation of the vascular tone. Pflugers Arch. 2014;466:1759-68 pubmed publisher..2 knockout mice. Overall, our results indicate that inhibition of Cav3 currents by 5,6-EET is an important mechanism controlling the vascular tone. ..
- Faggi F, Codenotti S, Poliani P, Cominelli M, Chiarelli N, Colombi M, et al. MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line. PLoS ONE. 2015;10:e0130287 pubmed publisher..Overall, our data suggest that MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of RMS. ..