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  • mutations
  • Several mutations in the muscle-specific caveolin, caveolin-3, lead to a form of autosomal dominant muscular dystrophy referred to as limb girdle muscular dystrophy type 1C (LGMD-1C). (biomedsearch.com)
  • One of these mutations (here termed the 'TFT mutation') results in a deletion of a tripeptide (DeltaTFT(63-65)) that affects the scaffolding and oligomerization domains of caveolin-3. (biomedsearch.com)
  • The results of this study demonstrate that caveolin-3 mutations associated with LGMD-1C disrupt normal cellular signal transduction pathways associated with caveolae and cause apoptosis in muscle cells, all of which may reflect pathogenetic pathways that lead to muscle degeneration in these disorders. (biomedsearch.com)
  • Abstract
  • Thus, the pathological loss of t-tubular I Ca , which contributes to impaired excitation-contraction coupling and thereby cardiac function in vivo, appears to be attributable to loss of caveolin 3-dependent stimulation of t-tubular I Ca . Abstract: Previous work has shown redistribution of L-type Ca 2+ current (I Ca ) from the t-tubules to the surface membrane of rat ventricular myocytes after myocardial infarction. (bris.ac.uk)
  • mutant
  • Mutant beta(3a)-ARs (F389A/Y392A/F398A or P384S/F389A) promoted PTX-sensitive cAMP responses, and in situ proximity assays demonstrated an association between caveolin-1 and the wild type beta(3a)-AR but not the mutant receptors. (diva-portal.org)
  • MURC
  • MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma. (nih.gov)
  • 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. (nih.gov)
  • dependent
  • More importantly, APPL1 and adenylate cyclase, 2 immediately downstream molecules required for AMPK-dependent and AMPK-independent signaling, respectively, formed a protein complex with AdipoR1 in a Cav-3 dependent fashion. (ahajournals.org)
  • gene
  • This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. (nih.gov)
  • molecular mechanisms
  • The molecular mechanisms underlying caveolin-associated diseases are still poorly understood. (nature.com)
  • While the molecular mechanisms involved in nAChR clustering remain to be fully defined, we hypothesize caveolin-3 is important for nAChR clustering and overall neuromuscular junction function.Caveolin-3 and the nAChR co-localize and associate evidenced by immunofluorescence and immunoprecipitation. (pitt.edu)
  • cells
  • Immunoprecipitation of MuSK shows that caveolin-3 and MuSK association peaks at 1 hour of agrin treatment in wildtype cells. (pitt.edu)
  • Formation
  • Comparison of contractile strength in wildtype and caveolin-3 null animals indicated tetanic contractions to be less stable in the caveolin-3 null animals, though there was late potentiation in actual contractile strength.Lack of caveolin-3 affects the neuromuscular junction formation and transmission without affecting overall contractile strength. (pitt.edu)
  • isoform
  • Intriguingly, the normal increases in the transcript of caveolin 3 as well as an integrin subunit, the beta1D isoform, were suppressed by FAK inhibition. (unitn.it)
  • human
  • Recombinant Human Caveolin-3 full length protein expressed in E.coli, shows a 50 kDa band on SDS-PAGE (Including GST). (creativebiomart.net)
  • Synthetic peptide (the amino acid sequence is considered to be commercially sensitive) corresponding to Human Caveolin-2 aa 1-100. (abcam.cn)
  • functional
  • Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death. (nih.gov)
  • inhibition
  • 10 This increase is associated with agonist-stimulated contractile augmentation by inhibition of nitric oxide synthase, suggesting that caveolin-3 is involved in nitric oxide influences on contractility in failing myocardium. (ahajournals.org)