The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutation...
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The Company of Biologists
2014-01-01
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| Series: | Disease Models & Mechanisms |
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| Online Access: | http://dmm.biologists.org/content/7/1/157 |
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doaj-068635897b254f50abb2acf06a148e6c2020-11-25T01:20:03ZengThe Company of BiologistsDisease Models & Mechanisms1754-84031754-84112014-01-017115716110.1242/dmm.012286012286The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafishElizabeth M. GibbsAnn E. DavidsonWilliam R. TelferEva L. FeldmanJames J. DowlingDNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutations are unresolved. We examined the common DNM2-S619L mutation using both in vitro and in vivo approaches. Expression of DNM2-S619L in zebrafish led to the accumulation of aberrant vesicular structures and to defective excitation-contraction coupling. Expression of DNM2-S619L in COS7 cells resulted in defective BIN1-dependent tubule formation. These data suggest that DNM2-S619L causes disease, in part, by interfering with membrane tubulation.http://dmm.biologists.org/content/7/1/157Dynamin-2Excitation-contraction couplingMyopathy |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Elizabeth M. Gibbs Ann E. Davidson William R. Telfer Eva L. Feldman James J. Dowling |
| spellingShingle |
Elizabeth M. Gibbs Ann E. Davidson William R. Telfer Eva L. Feldman James J. Dowling The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish Disease Models & Mechanisms Dynamin-2 Excitation-contraction coupling Myopathy |
| author_facet |
Elizabeth M. Gibbs Ann E. Davidson William R. Telfer Eva L. Feldman James J. Dowling |
| author_sort |
Elizabeth M. Gibbs |
| title |
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish |
| title_short |
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish |
| title_full |
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish |
| title_fullStr |
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish |
| title_full_unstemmed |
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish |
| title_sort |
myopathy-causing mutation dnm2-s619l leads to defective tubulation in vitro and in developing zebrafish |
| publisher |
The Company of Biologists |
| series |
Disease Models & Mechanisms |
| issn |
1754-8403 1754-8411 |
| publishDate |
2014-01-01 |
| description |
DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutations are unresolved. We examined the common DNM2-S619L mutation using both in vitro and in vivo approaches. Expression of DNM2-S619L in zebrafish led to the accumulation of aberrant vesicular structures and to defective excitation-contraction coupling. Expression of DNM2-S619L in COS7 cells resulted in defective BIN1-dependent tubule formation. These data suggest that DNM2-S619L causes disease, in part, by interfering with membrane tubulation. |
| topic |
Dynamin-2 Excitation-contraction coupling Myopathy |
| url |
http://dmm.biologists.org/content/7/1/157 |
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