Results for &quot;&quot;Caveolin 3&quot;&quot;[mesh_terms]

Characterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptor.

Gareth Whiteley, Richard F Collins, Ashraf Kitmitto

The Journal of biological chemistry 2013;287(48):40302-16

Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

Michael J Ackerman, David J Tester, Wei Zhou, Dan Ye

International journal of cardiology 2021;319():71-77

Long QT syndrome caveolin-3 mutations differentially modulate K 4 and Ca 1.2 channels to contribute to action potential prolongation.

Jabe M Best, Timothy J Kamp, Ravi C Balijepalli, Alexey V Glukhov, Andrew D McCulloch, Michael J Ackerman, Di Lang, Walatta T Mesquitta, Marites T Woon, Kevin P Vincent, Jason D Foell, Leonid Tyan

The Journal of physiology 2020;597(6):1531-1551

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Arthur A M Wilde, Ramón Brugada

Circulation research 2011;108(7):884-97

The genetic basis of long QT and short QT syndromes: a mutation update.

Paula L Hedley, Poul Jørgensen, Sarah Schlamowitz, Romilda Wangari, Johanna Moolman-Smook, Paul A Brink, Jørgen K Kanters, Valerie A Corfield, Michael Christiansen

Human mutation 2010;30(11):1486-511

Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje Cell-Dependent Ventricular Arrhythmias.

Lee L Eckhardt, Eleonora Grandi, Elise C McCune, Samuel Esch, Stefano Morotti, Kazi T Haq, Hanora Van Ert, Ravi Vaidyanathan

Circulation. Arrhythmia and electrophysiology 2019;11(1):e005800

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

D Figarella-Branger, J Pouget, R Bernard, M Krahn, C Fernandez, N Lévy, J F Pellissier

Neurology 2004;61(4):562-4

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.

S E Woodman, F Sotgia, F Galbiati, C Minetti, M P Lisanti

Neurology 2005;62(4):538-43

Regulation of plasma long-chain fatty acid oxidation in relation to uptake in human skeletal muscle during exercise.

Carsten Roepstorff, Bodil Vistisen, Kirstine Roepstorff, Bente Kiens

American journal of physiology. Endocrinology and metabolism 2004;287(4):E696-705

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

Laura Canafoglia, Elena Freri, Francesca Ragona, Raffaella Milanesi, Barbara Castellotti, Jacopo C DiFrancesco, Silvana Franceschetti, Sara Casciato, Cinzia Gellera, Tiziana Granata, Dario DiFrancesco, Andrea Barbuti, Ludovico D'Incerti, Giancarlo Di Gennaro, Ilaria Rivolta, Anna Binda, Roberta Solazzi, Antonio Gambardella, Angelo Labate, Cinzia Costa, Franco Taroni, Stefania Magri, Carlo Ferrarese

Epilepsy research 2019;153():49-58

Increased neuronal nitric oxide synthase-derived NO production in the failing human heart.

Thibaud Damy, Philippe Ratajczak, Ajay M Shah, Emmanuel Camors, Isabelle Marty, Gerd Hasenfuss, Françoise Marotte, Jane-Lise Samuel, Christophe Heymes

Lancet (London, England) 2004;363(9418):1365-7

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Bàrbara Flix, Carolina de la Torre, Juan Castillo, Carme Casal, Isabel Illa, Eduard Gallardo

The international journal of biochemistry & cell biology 2014;45(8):1927-38