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  • Pages - moreproject4
    desmin aggregation the hallmark of MFM Our previous studies have shown that the 4 major plectin isoforms expressed in muscle are crucial for the integrity of myofibers by specifically targeting and anchoring desmin IF networks to Z disks costameres mitochondria and the nuclear SR membrane system One of the major achievements of our ongoing project was the establishment of immortalized plectin deficient myocyte cell lines that spontaneously develop desmin aggregates

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreproject4.aspx (2016-02-17)
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  • Pages - moreproject5
    this consortium novel targeted treatment strategies for human myofibrillar myopathies MFMs our research within the first funding period aimed to elucidate the genetic basis and the mechanisms that translate known MFM mutations into the myopathic phenotype using forward and reverse genetic approaches in the zebrafish model Loss of function studies of known MFM disease genes reveal that MFM genedeficient zebrafish develop heart and skeletal muscle myopathies without signs of Protein aggregations suggesting that aggregates are not the main trigger of myopathy in the zebrafish We find that targeted depletion of putative MFM disease genes identified within this consortium e g Strumpellin KIAA1033 lead to severe myopathic phenotypes affecting both heart and skeletal muscle in zebrafish embryos Additionally we generated zebrafish that overexpress selected human MFM mutations transiently or in an inducible and stable transgenic manner The transgenic lines will now allow us to evaluate MFM pathophysiology for selected human mutations Within the second funding period we will focus on the detailed characterization of the novel MFM disease gene Nexilin identified by this consortium Specific aim 1 of this project is to functionally structurally molecularly as well as biomechanically characterize Nexilin knockout mice which we generated during the first funding period

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreproject5.aspx (2016-02-17)
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  • Pages - moreproject6
    6 Principle Investigators PD Dr med Oliver J Müller PD Dr med Christoph S Clemen Prof Dr med Rolf Schröder Summary Heterozygous and homozygous mutations of the human desmin gene cause familial and sporadic cardiomyopathies and myopathies Cardiac involvement frequently leads to progressive heart failure or sudden cardiac death In our previous work we have characterized the clinical myopathological and molecular consequences of a human R350P desmin missense mutation which is the most frequently encountered gene defect causing desminopathies in Germany We have successfully generated heterozygous and homozygous R350P desmin knock in mice First analyses of these animals revealed histopathological in vivo electrophysiological and functional characteristics of the human desmin cardiomyopathy In addition to a more detailed pathophysiological analysis of our R350P desmin knock in mice we will further study the pathological impact of two further domain specific human desmin mutants R16C head domain K449T tail domain using cardiac gene transfer with adeno associated Virus AAV vectors Since no specific therapy is available for human desminopathies we will evaluate the therapeutic potential of novel therapeutic approaches In a first step we will test the hypothesis if the AAV mediated over expression of small heat shock proteins aBcrystallin Hsp70 exert a

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreproject6.aspx (2016-02-17)
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  • Pages - moreproject8
    nat Franz Georg Hanisch Dr rer nat Stefan Müller Prof Dr rer nat Katrin Marcus Summary The CMMC Bioanalytics CBA University of Cologne and the Department of Functional Proteomics Ruhr University Bochum will serve as a joined Z project responsible for mass spectrometry based protein analysis and for the assistance in all technical workflows related to the topics of the FOR 1228 Both groups have made substantial contributions to the success of the interactive efforts during the first funding period and have demonstrated the advantages of complementary instrumentation and analysis strategies The service of the joined Z project covers the performance of top down proteomics 1D and 2D gel electrophoresis gel free isoelectric focussing Blue Native GE the analysis of Protein complexes and aggregates by complementary mass spectrometric equipment and a data evaluation in close interaction with the scientific groups Beyond standard proteomic Service the Z project has established techniques in differential proteomics isobaric label or label free techniques for the quantitative analysis of genuine plaque components and offers analytical support in the fine characterization of post translationally modified proteins and Mutant isoforms site specific phosphorylation glycosylation or ubiquitination sumoylation The apparative equipment and mass spectrometric expertise of both groups

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreproject8.aspx (2016-02-17)
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  • Pages - moreZ1
    med Oliver Friedrich Prof Dr med Gabriele Pfitzer Prof Dr Ing Ben Fabry Summary Myofibrillar myopathies MFM are associated with mutations in genes encoding cytoskeletal proteins and linker proteins e g desmin or plectin Most of these proteins connect adjacent myofibrils as well as myofibrils to Z lines or other important cytoskeletal components and thus ensure proper anchorage in biomechanically active muscle Disruptions of these linkages are expected to result in vast disturbances of biomechanical properties including elasticity active force production lower mechanical stress resistance that can induce cell damage and insufficient repair Although the common symptom in all patients with MFM is muscle weakness there is almost no information at hand as to how muscle is affected at different structural and functional levels within the organ and what is the molecular cause of the muscle weakness The present Z Project unites a consortium of researchers with renowned expertise in muscle biomechanics at all levels of organ function In a multiscale approach we will systematically investigate active and passive biomechanical properties of muscle function at the level of whole muscles small muscle fibre bundles and single muscle fibres as well as biomechanical response to cyclic stretch and focal adhesion points

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreZ1.aspx (2016-02-17)
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  • Pages - moreZ2
    Home Home More Z2 Quick Launch Overview Projects Project Leaders Team Publications Symposia News Job Offers Donations Contact Useful Links Imprint Search Project Z3 Principle Investigator Prof Dr med Rolf Schröder Summary The office located in Erlangen will be in charge of all administrative work related to this research group the organization of annual meetings as well as the maintenance of the internet platform and website We apply for a

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/moreZ2.aspx (2016-02-17)
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  • Pages - rolfschroeder
    Molecular Pathogenesis of Myofibrillar Myopathies FOR 1228 a DFG multilocation research unit Home Home Rolf Schröder Quick Launch Overview Projects Project Leaders Team Publications Symposia News Job Offers Donations Contact Useful Links Imprint Search Rolf Schröder MD Prof Dr med Extraordinary Professor of Neurology University of Bonn Professor of Neuropathology and Consultant in Neurology Institute of Neuropathology University Hospital Erlangen Contact Institute of Neuropathology University Hospital Erlangen Schwabachanlage 6 91054

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/rolfschroeder.aspx (2016-02-17)
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  • Pages - eichinger
    Pathogenesis of Myofibrillar Myopathies FOR 1228 a DFG multilocation research unit Home Home PD Dr rer nat Ludwig Eichinger Quick Launch Overview Projects Project Leaders Team Publications Symposia News Job Offers Donations Contact Useful Links Imprint Search Ludwig Eichinger Prof Dr rer nat Group leader and principal investigator Institute for Biochemistry I Medical Faculty University of Cologne Contact Institute for Biochemistry I Medical Faculty University of Cologne Joseph Stelzmann Str

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/eichinger.aspx (2016-02-17)
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