夏科-马里-图思病研究进展：CMT相关蛋白的细胞功能、转基因动物模型及发病机制。欧洲CMT联盟。

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.

作者信息

Müller H W, Suter U, Van Broeckhoven C, Hanemann C O, Nelis E, Timmerman V, Sancho S, Barrio L, Bolhuis P, Dermietzel R, Frank M, Gabreëls-Festen A, Gillen C, Haites N, Levi G, Mariman E, Martini R, Nave K, Rautenstrauss B, Schachner M, Schenone A, Schneider C, Schröder M, Willecke K

机构信息

Department of Neurology, Heinrich-Heine-University, Düsseldorf, Germany.

出版信息

Neurobiol Dis. 1997;4(3-4):215-20. doi: 10.1006/nbdi.1997.0148.

DOI:10.1006/nbdi.1997.0148

PMID:9361297

Abstract

The First Workshop of the European Consortium on Charcot-Marie-Tooth (CMT) disease brought together neuroscientists, molecular and cell biologists, neuropathologists, neurologists, and geneticists with a common interest in the understanding of the fundamental mechanisms that underlie the pathogenesis of CMT. The interdisciplinary group of 25 expert scientists discussed recent advances in (i) molecular genetics and histopathology of CMT, (ii) development of suitable animal models, (iii) understanding of the cellular function of CMT-related proteins, and (iv) studies using nerve biopsies from CMT patients. In this minireview, we summarize the key findings presented and discuss their impact on CMT research.

摘要

欧洲遗传性运动感觉神经病（CMT）联盟第一次研讨会汇聚了对理解CMT发病机制的基本原理有着共同兴趣的神经科学家、分子与细胞生物学家、神经病理学家、神经学家和遗传学家。这个由25位专家科学家组成的跨学科团队讨论了以下方面的最新进展：（i）CMT的分子遗传学和组织病理学；（ii）合适动物模型的开发；（iii）对CMT相关蛋白细胞功能的理解；（iv）使用CMT患者神经活检样本的研究。在这篇小型综述中，我们总结了所呈现的关键发现，并讨论了它们对CMT研究的影响。