@article{SchroederWarloHerrmannetal.1999, author = {Schr{\"o}der, Rolf and Warlo, Irene and Herrmann, Harald and VanDerVen, Peter F. M and Klasen, Christian and Bl{\"u}mke, Ingmar and Mundegar, Rustam R. and F{\"u}rst, Dieter Oswald and G{\"o}bel, Hans H. and Magin, Thomas}, title = {Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle}, year = {1999}, language = {en} } @article{SchroederFuerstKlasenetal.2000, author = {Schr{\"o}der, Rolf and F{\"u}rst, Dieter Oswald and Klasen, Christian and Reiman, Jens and Herrmann, Harald and VanDerVen, Peter F. M.}, title = {The association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton}, year = {2000}, language = {en} } @article{SchroederVanDerVenWarloetal.2000, author = {Schr{\"o}der, Rolf and VanDerVen, Peter F. M. and Warlo, Irene and Schumann, H. and F{\"u}rst, Dieter Oswald and Bl{\"u}mke, Ingmar and Goebel, Hans H. and Schmidt, M. C. and Hatzfeld, Mechthild}, title = {A member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle}, year = {2000}, language = {en} } @article{WiesnerSalmikangasAuerbachetal.2000, author = {Wiesner, Sebastian and Salmikangas, Paula and Auerbach, Daniel and Himmel, Mirko and Kempa, Stefan and Hayes, Kathrin and Pacholsky, Dirk and Taivainen, Anu and Schr{\"o}der, Rolf and Carpen, Olli and F{\"u}rst, Dieter Oswald}, title = {Indications for a novel muscular dystrophy pathway : gamma-filamin, the muscle-specific filamin isoform, intgeracts with myotilin}, year = {2000}, language = {en} } @article{VorgerdvanderVenBruchertseiferetal.2005, author = {Vorgerd, M. and vanderVen, Peter F. M. and Bruchertseifer, V. and Lowe, T. and Kley, R. A. and Schr{\"o}der, Rolf and Lochmuller, H. and Himmel, Mirko and Koehler, K. and F{\"u}rst, Dieter Oswald and Huebner, A.}, title = {A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy}, issn = {0002-9297}, year = {2005}, abstract = {Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a cosegregating, heterozygous nonsense mutation (8130G -> A; W2710X) in the filamin c gene ( FLNC) on chromosome 7q32.1. The mutation is the first found in FLNC and is localized in the dimerization domain of filamin c. Functional studies showed that, in the truncated mutant protein, this domain has a disturbed secondary structure that leads to the inability to dimerize properly. As a consequence of this malfunction, the muscle fibers of our patients display massive cytoplasmic aggregates containing filamin c and several Z-disk-associated and sarcolemmal proteins}, language = {en} }