Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
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DOI：
10.1038/ncomms2952
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发表时间：
2013
影响因子：
16.6
通讯作者：
中科院分区：
文献类型：
--
作者：
兴奋-收缩耦合，调节骨骼肌收缩的过程，通过激活Ca2+从内部储存的释放来启动肌肉收缩，从而传导膜电压的变化。肌电偶联缺陷与肌肉疾病有关。在这里，我们将Stac3确定为EC耦合机制的新组件。利用斑马鱼基因筛选，我们产生了一个运动突变，它被映射到stac3。我们提供了电生理、Ca2+成像、免疫细胞化学和生化证据，表明Stac3参与肌肉的兴奋-收缩耦合。此外，我们揭示了人类STAC3突变是使人衰弱的美洲原住民肌病（NAM）的遗传基础。对斑马鱼NAM - stac3的分析表明，NAM突变降低了兴奋-收缩耦合。这些发现增强了我们对兴奋-收缩耦合和肌病病理的理解。
Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca2+ from internal stores to initiate muscle contraction. Defects in EC coupling are associated with muscle diseases. Here we identify Stac3 as a novel component of the EC coupling machinery. Using a zebrafish genetic screen, we generate a locomotor mutation that is mapped to stac3. We provide electrophysiological, Ca2+ imaging, immunocytochemical and biochemical evidence that Stac3 participates in excitation-contraction coupling in muscles. Furthermore, we reveal that a mutation in human STAC3 as the genetic basis of the debilitating Native American myopathy (NAM). Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies.
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影响因子：
4.5
作者：
Dowling, James J.;Vreede, Andrew P.;Low, Sean E.;Gibbs, Elizabeth M.;Kuwada, John Y.;Bonnemann, Carsten G.;Feldman, Eva L.
通讯作者：
Feldman, Eva L.
影响因子：
64.5
作者：
BRILLANTES, AMB;ONDRIAS, K;MARKS, AR
通讯作者：
MARKS, AR
影响因子：
64.8
作者：
GONZALEZSERRATOS, H;VALLEAGUILERA, R;GARCIA, MD
通讯作者：
GARCIA, MD
影响因子：
25
作者：
Altier, Christophe;Garcia-Caballero, Agustin;Zamponi, Gerald W.
通讯作者：
Zamponi, Gerald W.
影响因子：
4.8
作者：
Bower, Neil I.;de la Serrana, Daniel Garcia;Johnston, Ian A.
通讯作者：
Johnston, Ian A.