The toxic effect of R350P mutant desmin in striated muscle of man and mouse-Reference-Cited by-同舟云学术

The toxic effect of R350P mutant desmin in striated muscle of man and mouse

Published:2014-11-14 Issue:2 Volume:129 Page:297-315
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Clemen Christoph S.,Stöckigt Florian,Strucksberg Karl-Heinz,Chevessier Frederic,Winter Lilli,Schütz Johanna,Bauer Ralf,Thorweihe José-Manuel,Wenzel Daniela,Schlötzer-Schrehardt Ursula,Rasche Volker,Krsmanovic Pavle,Katus Hugo A.,Rottbauer Wolfgang,Just Steffen,Müller Oliver J.,Friedrich Oliver,Meyer Rainer,Herrmann Harald,Schrickel Jan Wilko,Schröder Rolf

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00401-014-1363-2/fulltext.html

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3. Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R (2005) Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum Mol Genet 14:1251–1260

4. Bär H, Mücke N, Kostareva A, Sjoberg G, Aebi U, Herrmann H (2005) Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci USA 102:15099–15104

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