Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation

Experimental Cell Research
Harald BärHarald Herrmann

Abstract

We recently demonstrated that inherited disease-causing mutations clustered in the alpha-helical coiled-coil "rod" domain of the muscle-specific intermediate filament (IF) protein desmin display a wide range of inhibitory effects on regular in vitro assembly. In these studies, we showed that individual mutations exhibited phenotypes that were not, with respect to the severity of interference, predictable by our current knowledge of the structural design of IF proteins. Moreover, the behavior of some mutated proteins in a standard tissue culture cell expression system was found to be even more complex. Here, we systematically investigate the behavior of these disease mutants in four different cell types: three not containing desmin or the related IF protein vimentin and the standard fibroblast line 3T3, which has an extensive vimentin system. The ability of the mutants to form filaments in the vimentin-free cells varies considerably, and only the mutants forming IFs in vitro generate extended filamentous networks. Furthermore, these latter mutants integrate into the 3T3 vimentin network but all the others do not. Instead, they cause the endogenous network of 3T3 vimentin to reorganize into perinuclear bundles. In addition, most ...Continue Reading

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Oct 12, 2005·Proceedings of the National Academy of Sciences of the United States of America·Harald BärHarald Herrmann

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Citations

Jan 30, 2014·Proceedings of the National Academy of Sciences of the United States of America·Li-Sophie Z RathjeAnnica K B Gad
Jun 10, 2008·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Manolis MavroidisYassemi Capetanaki
Jul 10, 2009·The Journal of Clinical Investigation·Harald HerrmannUeli Aebi
Jul 10, 2009·The Journal of Clinical Investigation·Lev G Goldfarb, Marinos C Dalakas
Nov 13, 2012·Acta Neuropathologica·Christoph S ClemenRolf Schröder
Apr 10, 2012·Pediatric Cardiology·Alexandra GudkovaThomas Sejersen
Sep 19, 2009·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Sarika SharmaHarald Bär
May 28, 2008·Neuromuscular Disorders : NMD·Katharina StrachRolf Schröder
May 19, 2007·Experimental Cell Research·Yassemi CapetanakiStelios Psarras
Jun 17, 2009·Cell Motility and the Cytoskeleton·Harald BärHarald Herrmann
Jul 1, 2009·Brain Pathology·Rolf Schröder, Benedikt Schoser
Jul 11, 2006·Journal of Molecular Biology·Harald BärHarald Herrmann
Mar 24, 2011·Journal of Structural Biology·Marija PlodinecCora-Ann Schoenenberger
Feb 22, 2012·The American Journal of Pathology·Etsuko KedukaIchizo Nishino
Feb 23, 2010·Journal of Molecular Biology·Harald BärNorbert Willenbacher
Jun 20, 2008·Journal of Muscle Research and Cell Motility·Anna KostarevaThomas Sejersen
Feb 28, 2007·Circulation·Matthew R G TaylorUNKNOWN BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank
Jun 7, 2007·Nature Reviews. Molecular Cell Biology·Harald HerrmannUeli Aebi
Sep 5, 2008·Current Opinion in Neurology·Duygu Selcen
Nov 16, 2006·Journal of Cell Science·Karine LapougeLuca Borradori
Feb 8, 2011·European Journal of Cell Biology·Bertrand FavreLionel Fontao

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