| Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk. | Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk.
Garman KS, Purkayastha BPD, Hogue JA, Fecteau R, BETRNet CONSORTIUM, Guda K, Chak A., | 12/15/2023 |
| The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli. | The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli.
Grundy L, Tay C, Christie S, Harrington AM, Castro J, Cardoso FC, Lewis RJ, Zagorodnyuk V, Brierley SM., Free PMC Article | 04/19/2023 |
| Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu. | Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.
Venugopal P, Logu K, Balakrishnan K, Subbaih U, Damal Kandadai S, George M. | 04/4/2023 |
| Caveolin-3 prevents swelling-induced membrane damage via regulation of ICl,swell activity. | Caveolin-3 prevents swelling-induced membrane damage via regulation of I(Cl,swell) activity.
Turner DGP, Tyan L, DeGuire FC, Medvedev RY, Stroebel SJ, Lang D, Glukhov AV., Free PMC Article | 05/14/2022 |
| Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes. | Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.
Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JRD, Sutanto H, Pacheu-Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfuss G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener J, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE. | 10/9/2021 |
| A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble. | A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.
Bruno G, Puoti G, Oliva M, Colavito D, Allegorico L, Napolitano F, Sampaolo S. | 08/21/2021 |
| A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies. | A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS, Prószyński TJ., Free PMC Article | 03/6/2021 |
| Caveolin proteins electrochemical oxidation and interaction with cholesterol. | Caveolin proteins electrochemical oxidation and interaction with cholesterol.
Fernandes IPG, Oliveira-Brett AM. | 12/19/2020 |
| LQT9 Cav3 mutations, F97C and S141R, modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation. | Long QT syndrome caveolin-3 mutations differentially modulate K(v) 4 and Ca(v) 1.2 channels to contribute to action potential prolongation.
Tyan L, Foell JD, Vincent KP, Woon MT, Mesquitta WT, Lang D, Best JM, Ackerman MJ, McCulloch AD, Glukhov AV, Balijepalli RC, Kamp TJ., Free PMC Article | 07/11/2020 |
| The CAV3-P104L mutation inhibits glycometabolism and cell growth but accelerates C2C12 cell proliferation by reducing CAV3 protein expression and cell membrane localization, which may contribute to the pathogenesis of LGMD-1C. | The caveolin-3 P104L mutation in LGMD-1C patients inhibits non-insulin-stimulated glucose metabolism and growth but promotes myocyte proliferation.
Shang L, Chen T, Xian J, Deng Y, Huang Y, Zhao Q, Liang G, Liang Z, Lian F, Wei H, Huang Q. | 09/14/2019 |
| Under mechanical stress the regulation of mechanoprotection by caveolae is directly coupled with the regulation of IL6/STAT3 signaling in muscle cells and that this regulation is absent in Cav3-associated dystrophic patients. | Dystrophy-associated caveolin-3 mutations reveal that caveolae couple IL6/STAT3 signaling with mechanosensing in human muscle cells.
Dewulf M, Köster DV, Sinha B, Viaris de Lesegno C, Chambon V, Bigot A, Bensalah M, Negroni E, Tardif N, Podkalicka J, Johannes L, Nassoy P, Butler-Browne G, Lamaze C, Blouin CM., Free PMC Article | 07/6/2019 |
| Kir2.x isoforms have a unique intracellular pattern of distribution in association with specific Cav3 domains and that critically depends on interaction with N-terminal Kir2.x Cav3-binding motifs | Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje Cell-Dependent Ventricular Arrhythmias.
Vaidyanathan R, Van Ert H, Haq KT, Morotti S, Esch S, McCune EC, Grandi E, Eckhardt LL., Free PMC Article | 06/22/2019 |
| 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. | The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.
Campostrini G, Bonzanni M, Lissoni A, Bazzini C, Milanesi R, Vezzoli E, Francolini M, Baruscotti M, Bucchi A, Rivolta I, Fantini M, Severi S, Cappato R, Crotti L, J Schwartz P, DiFrancesco D, Barbuti A., Free PMC Article | 05/26/2018 |
| 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. | CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. | 01/27/2018 |
| 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. | Functional interaction of the two-pore domain potassium channel TASK-1 and caveolin-3.
Kang C, Hernandez VA, Hu K. | 12/9/2017 |
| 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. | The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
Brauers E, Roos A, Kollipara L, Zahedi RP, Beckmann A, Mohanadas N, Bauer H, Häusler M, Thoma S, Kress W, Senderek J, Weis J., Free PMC Article | 09/23/2017 |
| 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. | Long-QT syndrome-associated caveolin-3 mutations differentially regulate the hyperpolarization-activated cyclic nucleotide gated channel 4.
Motloch LJ, Larbig R, Darabi T, Reda S, Motloch KA, Wernly B, Lichtenauer M, Gebing T, Schwaiger A, Zagidullin N, Wolny M, Hoppe UC. | 09/16/2017 |
| This study demonstrated that the Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis. | Caveolin-3 is aberrantly expressed in skeletal muscle cells in myasthenia gravis.
Iwasa K, Furukawa Y, Yoshikawa H, Yamada M. | 08/19/2017 |
| 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 | A pH-Mediated Topological Switch within the N-Terminal Domain of Human Caveolin-3.
Kim JH, Schlebach JP, Lu Z, Peng D, Reasoner KC, Sanders CR., Free PMC Article | 07/8/2017 |
| The Cav3 P104L mutation of limb girdle muscular dystrophy-1C leads to disordered glucose metabolism in muscle cells. | The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.
Deng YF, Huang YY, Lu WS, Huang YH, Xian J, Wei HQ, Huang Q. | 06/24/2017 |
| 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. | Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
Schlebach JP, Barrett PJ, Day CA, Kim JH, Kenworthy AK, Sanders CR., Free PMC Article | 07/30/2016 |
| MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma. | 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.
Faggi F, Codenotti S, Poliani PL, Cominelli M, Chiarelli N, Colombi M, Vezzoli M, Monti E, Bono F, Tulipano G, Fiorentini C, Zanola A, Lo HP, Parton RG, Keller C, Fanzani A., Free PMC Article | 04/30/2016 |
| 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. | Caveolinopathies in Greece.
Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P. | 04/23/2016 |
| 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. | The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Winkel BG, Yuan L, Olesen MS, Sadjadieh G, Wang Y, Risgaard B, Jabbari R, Haunsø S, Holst AG, Hollegaard MV, Tfelt-Hansen J, Jespersen T. | 03/12/2016 |
| 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 | CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B. | 02/20/2016 |