TY  - JOUR
A1  - Schröder, Rolf
A1  - Fürst, Dieter Oswald
A1  - Klasen, Christian
A1  - Reiman, Jens
A1  - Herrmann, Harald
A1  - VanDerVen, Peter F. M.
T1  - The association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton
Y1  - 2000
ER  - 
TY  - JOUR
A1  - Wiesner, Sebastian
A1  - Salmikangas, Paula
A1  - Auerbach, Daniel
A1  - Himmel, Mirko
A1  - Kempa, Stefan
A1  - Hayes, Kathrin
A1  - Pacholsky, Dirk
A1  - Taivainen, Anu
A1  - Schröder, Rolf
A1  - Carpen, Olli
A1  - Fürst, Dieter Oswald
T1  - Indications for a novel muscular dystrophy pathway : gamma-filamin, the muscle-specific filamin isoform, intgeracts with myotilin
Y1  - 2000
ER  - 
TY  - JOUR
A1  - Schröder, Rolf
A1  - Warlo, Irene
A1  - Herrmann, Harald
A1  - VanDerVen, Peter F. M
A1  - Klasen, Christian
A1  - Blümke, Ingmar
A1  - Mundegar, Rustam R.
A1  - Fürst, Dieter Oswald
A1  - Göbel, Hans H.
A1  - Magin, Thomas
T1  - Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle
Y1  - 1999
ER  - 
TY  - JOUR
A1  - Vorgerd, M.
A1  - vanderVen, Peter F. M.
A1  - Bruchertseifer, V.
A1  - Lowe, T.
A1  - Kley, R. A.
A1  - Schröder, Rolf
A1  - Lochmuller, H.
A1  - Himmel, Mirko
A1  - Koehler, K.
A1  - Fürst, Dieter Oswald
A1  - Huebner, A.
T1  - A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy
N2  - 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
Y1  - 2005
SN  - 0002-9297
ER  - 
TY  - JOUR
A1  - Schröder, Rolf
A1  - VanDerVen, Peter F. M.
A1  - Warlo, Irene
A1  - Schumann, H.
A1  - Fürst, Dieter Oswald
A1  - Blümke, Ingmar
A1  - Goebel, Hans H.
A1  - Schmidt, M. C.
A1  - Hatzfeld, Mechthild
T1  - A member of the armadillo multigene family, is a constituent of sarcomeric I-bands in human skeletal muscle
Y1  - 2000
ER  -