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| Item Type: | Article |
|---|---|
| Title: | Cavin 1 function does not follow caveolar morphology |
| Creators Name: | Timmel, T., Kunz, S., Seifert, F., Schuelke, M. and Spuler, S. |
| Abstract: | The function of caveolae, small invaginations of the plasma membrane, remains a matter of debate. Endocytosis and compartmentalization of metabolic and signaling pathways are discussed. Caveolin 3 and PTRF are two important proteins that ensure shaping of caveolae in muscle cells. We investigated caveolae morphologically by electron microscopy in human myotubes obtained from patients with CAV3 mutations and did functional analyses in human fibroblasts derived from a patient with a mutation in PTRF. We found that despite the complete clinical picture of a caveolinopathy the caveolin 3-deficient myotubes displayed normal caveolae in shape and number. Further, PTRF-deficient fibroblasts devoid of caveolae took up cholera toxin B differently in comparison to normal fibroblasts. However, after caveolae were rescued by transfection of PTRF, the cholera toxin B uptake did not normalize. We conclude that the presence of caveolae as an anatomical structure is not sufficient to ensure their proper function. Alternatively, the functional properties assigned to caveolae might be mediated by different mechanisms yet to be resolved. |
| Keywords: | Caveolae, Caveolin, Cavin 1/PTR, FACS, Electron Microscopy |
| Source: | American Journal of Physiology Cell Physiology |
| ISSN: | 0363-6143 |
| Publisher: | American Physiological Society |
| Volume: | 308 |
| Number: | 12 |
| Page Range: | C1023-C1030 |
| Date: | 15 June 2015 |
| Additional Information: | Copyright © 2015 the American Physiological Society |
| Official Publication: | https://doi.org/10.1152/ajpcell.00329.2014 |
| PubMed: | View item in PubMed |
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