Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms

Autor: Hans W. Müller, Ueli Suter, Christine Van Broeckhoven, O. Haneman, E. Nelis, V. Timmerman, S. Sancho, L. Barrio, P. Bolhuis, R. Dermietzel, M. Frank, A. Gabreëls-Festen, C. Gillen, N. Haites, G. Levi, E. Mariman, R. Martini, K. Nave, B. Rautenstrauss, M. Schachner, A. Schenone, C. Schneider, M. Schröder, K. Willecke
Jazyk: angličtina
Rok vydání: 1997
Předmět:
Zdroj: Neurobiology of Disease, Vol 4, Iss 3, Pp 215-220 (1997)
Druh dokumentu: article
ISSN: 1095-953X
DOI: 10.1006/nbdi.1997.0148
Popis: 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.
Databáze: Directory of Open Access Journals