Intermediate filaments (IFs) are encoded by the largest gene family among the three major cytoskeletal protein groups. Unique IF compliments are expressed in selective cell types, and this expression is reflected in their involvement, upon mutation, as a cause of or predisposition to more than 80 human tissue-specific diseases. This Review Series covers diseases and functional and structural aspects pertaining to IFs and highlights the molecular and functional consequences of IF-associated diseases (IF-pathies). Exciting challenges and opportunities face the IF field, including developing both a better understanding of the pathogenesis of IF-pathies and targeted therapeutic approaches.
M. Bishr Omary
Title and authors | Publication | Year |
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The toxic effect of R350P mutant desmin in striated muscle of man and mouse
CS Clemen, F Stöckigt, KH Strucksberg, F Chevessier, L Winter, J Schütz, R Bauer, JM Thorweihe, D Wenzel, U Schlötzer-Schrehardt, V Rasche, P Krsmanovic, HA Katus, W Rottbauer, S Just, OJ Müller, O Friedrich, R Meyer, H Herrmann, JW Schrickel, R Schröder |
Acta Neuropathologica | 2014 |
Post-translational modifications of intermediate filament proteins: mechanisms and functions
NT Snider, MB Omary |
Nature Reviews Molecular Cell Biology | 2014 |
Interphase phosphorylation of lamin A
V Kochin, T Shimi, E Torvaldson, SA Adam, A Goldman, CG Pack, J Melo-Cardenas, SY Imanishi, RD Goldman, JE Eriksson |
Journal of cell science | 2014 |