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KMID : 0620919960280020055
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Experimental & Molecular Medicine
1996 Volume.28 No. 2 p.55 ~ p.63
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Intermediate filaments in health and disease
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Steinert, Peter
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Abstract
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Int: rmediate filaments constitute one of the major clz sses of cytoskeletal proteins of mammalian cel s. The 40 or more known intermediate filament prc) teins have been classified into five types which show very specific rules of expression in spi cialized cell types, and include: type I and type II I;eratins of epithelial cells; type III vimentin (m !senchymal cells), desmin (muscle), glial fibs illary acidic protein (astroglia), and peripherin (pe ipheral neurones); type IV neurofilaments of nel ronal cell types; and type V nuclear lamins. lnt ~rmediate filaments differ from ubiquitous mic rofilaments (actin) and microtubules (tubulin) in se% oral important ways, including their structures, intracellular dynamics, and functions. Notably, intermediate filament chains possess a characteristic central cx-helical domain that forms coiled-coil rods which in turn assemble into 10-15 nm dia peter filaments. The end domains which flank the rod domain are highly variable in sequence and col fer specific functions to the filaments in diff gent cell types. Recently, a number of diseases hai a been identified in human that involve mu ations in genes encoding intermediate filament chi ins. These include seven different keratin dis Lases, usually caused by mutations in rod dor ain sequences which often result in serious skin (epidermal) abnormalities; and many cases of spc adic amyotrophic lateral sclerosis caused by mulations in the end domain sequences of neu ofilament chains.
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