Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
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DOI：
10.1371/journal.pgen.1002595
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发表时间：
2012
期刊：
影响因子：
4.5
通讯作者：
Laporte J
中科院分区：
文献类型：
--
作者：
Cowling BS;Toussaint A;Muller J;Laporte J
参与膜重塑的蛋白质在包括内吞作用和细胞内运输在内的众多细胞功能中起着至关重要的作用。其中一些蛋白质的缺陷会导致人类疾病。肌管蛋白、 amphiphysins和发动蛋白都是与膜运输和/或重塑有关的蛋白质。肌管蛋白、amphiphysin 2（BIN1）和发动蛋白2的突变会导致不同形式的中央核肌病，而肌管蛋白相关蛋白的突变会导致夏科 - 马里 - 图思神经病。除了中央核肌病，发动蛋白2在显性形式的夏科 - 马里 - 图思神经病中也会发生突变。虽然来自这些不同家族的几种蛋白质与相似的疾病有关，但在发动蛋白2的情况下，近同源物或同一蛋白质的突变会导致影响不同组织的疾病。这表明（1）这些不同的神经肌肉疾病背后存在一个共同的分子途径，以及（2）这些蛋白质的组织特异性调控。这篇综述基于为肌管蛋白、amphiphysin和发动蛋白家族的蛋白质所开发的动物模型，讨论了相关神经肌肉疾病的病理生理学。更好地理解这些神经肌肉疾病之间的共同机制将导致更具针对性的医疗保健和治疗方法。
Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases. Myotubularins, amphiphysins, and dynamins are all proteins implicated in membrane trafficking and/or remodeling. Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms of centronuclear myopathy, while mutations in myotubularin-related proteins cause Charcot-Marie-Tooth neuropathies. In addition to centronuclear myopathy, dynamin 2 is also mutated in a dominant form of Charcot-Marie-Tooth neuropathy. While several proteins from these different families are implicated in similar diseases, mutations in close homologues or in the same protein in the case of dynamin 2 lead to diseases affecting different tissues. This suggests (1) a common molecular pathway underlying these different neuromuscular diseases, and (2) tissue-specific regulation of these proteins. This review discusses the pathophysiology of the related neuromuscular diseases on the basis of animal models developed for proteins of the myotubularin, amphiphysin, and dynamin families. A better understanding of the common mechanisms between these neuromuscular disorders will lead to more specific health care and therapeutic approaches.
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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：
3.3
作者：
Dang, H;Li, Z;Fares, H
通讯作者：
Fares, H
MTMR2的破坏会产生CMT4B1样神经病，髓磷脂外折叠和精子发生受损。
影响因子：
7.8
作者：
Bolino, Alessandra;Bolis, Annalisa;Previtali, Stefano Carlo;Dina, Giorgia;Bussini, Simona;Dati, Gabriele;Amadio, Stefano;Del Carro, Ubaldo;Mruk, Dolores D;Feltri, Maria Laura;Cheng, C Yan;Quattrini, Angelo;Wrabetz, Lawrence
通讯作者：
Wrabetz, Lawrence
影响因子：
2.8
作者：
Echaniz-Laguna, Andoni;Nicot, Anne-Sophie;Laporte, Jocelyn
通讯作者：
Laporte, Jocelyn
影响因子：
30.8
作者：
Bolino, A;Muglia, M;Monaco, AP
通讯作者：
Monaco, AP