archive-com.com » COM » M » MYOFIBRILLAR-MYOPATHIES.COM

Total: 34

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • Home
    that often lead to premature death To date no causative or ameliorating therapy is available Myofibrillar myopathies are histopathologically characterised by pathological protein aggregates and degenerative changes of myofibrills While half of these progressive muscle diseases are caused by desmin filamin C plectin VCP FHL1 ZASP myotilin alphaB crystallin and BAG3 gene mutations the other half of myofibrillar myopathies is due to still unresolved gene defects The precise molecular pathways leading from an individual gene defect to a mutually shared structural pathology of skeletal muscle tissue are currently unknown This Research Unit focusses on the following goals 1 characterisation of individual and shared disease mechanisms in myofibrillar myopathies due to desmin plectin filamin C ZASP VCP FHL1 and alphaB crystallin mutations 2 systematic analyses of disease specific cell and animal models 3 validation of cell and animal models for pharmacological treatment strategies 4 biochemical characterisation of the composition of pathological protein aggregates in skeletal muscle biopsies from patients with myofibrillar myopathies and disease relevant animal models 5 identification of novel genes and proteins that are centrally involved in the pathogenesis of myofibrillar myopathies This Research Unit which is driven by distinguished groups from eight different universities will specifically analyse the

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/Default.aspx (2016-02-17)
    Open archived version from archive

  • Pages - overview
    in the latter two disease entities strong endothelial NOS eNOS and neuronal NOS nNOS immunoreactivities have been described at the sarcolemma as well as within the cytoplasm of muscle fibres containing protein deposits 27 Hence focal disturbances in the production of ATP may have a negative influence both on the structural integrity of myofibrils and other highly ATP dependant cellular compartments and processes Other central factors are primary or secondary disturbances of protein quality control mechanisms related to the ubiquitin proteasome system UPS and the autophagic lysosomal pathway types 1 and 2 of programmed cell death Figure 1 The UPS plays a pivotal role in nonlysosomal protein degradation 28 Misfolded proteins are subjected to degradation 29 by ligating ubiquitin to the substrate protein which is further transferred to the proteasome by VCP and its co factors The proteolytically active core of the proteasome the 20S subunit has to link with 19S regulatory complexes in an ATP dependent fashion to form the fully active 26S proteasome Interestingly in MFM several proteasome subunits are abnormally expressed and subunits of 20S and 19S colocalise with ubiquitin and protein aggregates including desmin α B crystallin gelsolin and phosphorylated tau in abnormal in myotilinopathies 30 Heart muscle from a transgenic mouse model of desminopathy expressing a desmin variant with a seven amino acids deletion revealed overexpression of the 20S subunit and downregulation of the 19S subunit of the proteasome 31 While neither the ubiquitination process nor the core proteolytic activity of the proteasome are inhibited per se the corroborative data indicates that the abnormalities of the UPS in MFM are due to a failure in the VCP mediated entry of ubiquitinated proteins into the 20S proteasome Since UPS and autophagic buildup are inversely related skeletal muscle from patients with mutations of VCP desmin filamin C plectin FHL1 myotilin or ZASP exhibit signs of increased autophagy as defined by the presence of rimmed and non rimmed vacuoles 4 5 This observation implies a direct molecular cross talk between the UPS and the autophagic system The pathophysiological relevance of the autophagy lysosomal system in MFM is emphasized by a recent publication showing that the impairment of autophagic processes in a transgenic mouse model expressing an α B crystallin mutant leads to a dramatic increase in the severity of the cardiac pathology 20 There is considerable overlap between pathophysiological aspects in MFM and various neurodegenerative diseases Beyond mere aspects of protein aggregation UPS dysfunction increased autophagic build up and mitochondrial dysfunction the following aspects are shared between protein aggregate diseases of the CNS and skeletal muscle i Molecular misreading of the ubiquitin B gene UBB results in a dinucleotide deletion in the UBB mRNA that leads to the production of a mutant variant with an aberrant C terminus known as UBB 1 32 UBB 1 accumulates in neurons with neurofibrillary tangles in Alzheimer s disease and related tauopathies as well as in intranuclear inclusions in Huntington s disease 33 and in myotilinopathies and to a lesser extent in desminopathie 34 Here it is important to note that at certain expression levels UBB 1 is unable to ubiquitinate target proteins and the ubiquitinated UBB 1 itself inhibits the proteasome 33 ii p62 also known as sequestosome 1 is an immediate early response gene activated by several extracellular signals 35 It possesses a ubiquitin associated UBA domain that binds polyubiquitin chains and actively participates in the formation of protein aggregates by recruiting polyubiquitinated proteins through its UBA domain 36 37 p62 has been shown to be a constituent of protein aggregates in several human diseases including Alzheimer s disease Pick s disease Parkinson s disease dementia with Lewy bodies and multiple systematrophy Strong p62 immunoreactivity with myofibrillar inclusions is found in myotilinopathies 34 iii Clusterin also known as apolipoprotein J or SP40 is a ubiquitously expressed sialoglycoprotein which is believed to act as a molecular chaperone Clusterin has been demonstrated to be a component of protein aggregates in various MFM Alzheimer s disease Parkinson s disease and prion disease 38 Though recent years have brought exciting new insights into the pathogenesis of MFM the precise molecular pathways and sequential steps that lead from an individual gene defect to progressive muscle damage still need to be clarified Further progress in our understanding of the disease mechanisms however has been hampered by the fact that muscle biopsies from affected patients reflect only late stages of the disease process and are available only in small amounts In addition human skeletal muscle samples from pre clinical early and intermediate stages are not accessible and there is still a lack of physiological MFM cell and animalmodels This consortium therefore sets out to clarify the pathophysiology of MFM and to provide the scientific basis for novel targeted treatment approaches References 1 Schröder R Vrabie A Goebel HH Primary desminopathies J Cell Mol Med 2007 May Jun 11 3 416 26 Review PubMed PMID 17635637 2 Goebel HH Fardeau M Olivé M Schröder R 156th ENMC International Workshop desmin and protein aggregate myopathies 9 11 November 2007 Naarden The Netherlands Neuromuscul Disord 2008 Jul 18 7 583 92 Epub 2008 Jul 1 PubMed PMID 18595698 3 Selcen D Ohno K Engel AG Myofibrillar myopathy clinical morphological and genetic studies in 63 patients Brain 2004 Feb 127 Pt 2 439 51 Epub 2004 Jan 7 PubMed PMID 14711882 4 Hübbers CU Clemen CS Kesper K Böddrich A Hofmann A Kämäräinen O Tolksdorf K Stumpf M Reichelt J Roth U Krause S Watts G Kimonis V Wattjes MP Reimann J Thal DR Biermann K Evert BO Lochmüller H Wanker EE Schoser BG Noegel AA Schröder R Pathological consequences of VCP mutations on human striated muscle Brain 2007 Feb 130 Pt 2 381 93 Epub 2006 Sep 19 PubMed PMID 16984901 5 Schröder R Schoser B Myofibrillar myopathies a clinical and myopathological guide Brain Pathol 2009 Jul 19 3 483 92 Review PubMed PMID 19563540 6 Bär H Strelkov SV Sjöberg G Aebi U Herrmann H The biology of desmin

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/overview.aspx (2016-02-17)
    Open archived version from archive

  • Pages - projects
    VCP p97 binding partners and effects of disease causing VCP p97 mutations on protein interactions and Protein quality control systems in Dictyostelium and mouse Read more Project 2 Filamin C myopathy from pathogenic mutations towards novel targeted treatment concepts Read more Project 3 Impact of MFM disease mutations on the assembly mechanisms and Network formation of muscle specific intermediate filament proteins Read more Project 4 Knockout mice and myocyte cell

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/projects.aspx (2016-02-17)
    Open archived version from archive

  • Pages - projectleader
    Vice Speaker Prof Dr phil Dieter Fürst Project 1 Prof Dr med Rolf Schröder Prof Dr rer nat Ludwig Eichinger PD Dr med Christoph S Clemen Project 2 Prof Dr phil Dieter Fürst Dr med Rudolf A Kley Project 3 Prof Dr rer nat Harald Herrmann Lerdon Project 4 Prof Dr rer nat Gerhard Wiche Project 5 Prof Dr med Wolfgang Rottbauer Dr rer nat Steffen Just Project 6 PD

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/projectleader.aspx (2016-02-17)
    Open archived version from archive

  • Pages - team
    II AG Dr Just Albert Einstein Allee 23 89081 Ulm Tel 49 9731 50045119 Email Linda Gaertner uniklinik ulm de Hahn Yvonne Dipl biol Institut für Zellbiologie Universität Bonn Ulrich Haberland Strasse 61a 53121 Bonn Tel 49 228 73 5487 Email yhahn uni bonn de Hanisch Franz Georg Prof Dr rer nat Zentrum für Molekulare Medizin Josef Stelzmann Strasse 52 50931 Köln Tel 49 221 478 4493 Email franz hanisch uni koeln de Herrmann Lerdon Harald Prof Dr rer nat Deutsches Krebsforschungszentrum Im Neuenheimer Feld 280 69120 Heidelberg Tel 49 6221 423 512 Email h herrmann dkfz heidelberg de Just Steffen Dr rer nat Universitätsklinikum Ulm Klinik für Innere Medizin II Kardiologie Angiologie Pneumologie Sport und Rehabilitationsmedizin Albert Einstein Allee 23 89081 Ulm Tel 49 0731 500 45042 Email steffen just uniklinik ulm de Kley Rudolf Andre Dr med Neurologische Universitätsklinik Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil Bürkle de la Camp Platz 1 44789 Bochum Tel 49 234 30 23613 Email rudolf kley rub de Kress Wolfram Dr rer nat Institut für Humangenetik Biozentrum der Universität Würzburg Am Hubland 97074 Würzburg Tel 49 931 31 84062 Email wkress biozentrum uni wuerzburg de Marcus Katrin Prof Dr rer nat Abteilung Funktionelle Proteomik Medizinisches Proteom Center Ruhr Universität Bochum Universitätsstr 150 44801 Bochum Tel 49 234 32 28444 Email katrin marcus rub de Rottbauer Wolfgang Prof Dr med Universitätsklinikum Ulm Klinik für Innere Medizin II Kardiologie Angiologie Pneumologie Sport und Rehabilitationsmedizin Albert Einstein Allee 23 89081 Ulm Tel 49 0731 500 45001 Email wolfgang rottbauer uniklinik ulm de Schessl Joachim Dr med Friedrich Baur Institut Neurologische Klinik und Poliklinik Ludwig Maximilians Universität Ziemssenstrasse 1 80336 München Tel 49 89 5160 7400 Email joachim schessl med uni muenchen de Schoser Benedikt PD Dr med Friedrich Baur Institut Neurologische Klinik und Poliklinik Ludwig Maximilians Universität Ziemssenstrasse 1

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/team.aspx (2016-02-17)
    Open archived version from archive

  • Pages - publication
    and Cell Biology 140 33 53 56 Valencia R G Walko G Janda L Novacek J Mihailovska E Reipert S Andrä Marobela K and Wiche G 2013 Intermediate filament associated cytolinker plectin 1c destabilizes microtubules in keratinocytes Molecular Biology of the Cell 24 768 784 55 Fuchs P and Wiche G 2013 Intermediate filament linker proteins Plectin and BPAG1 In Encyclopedia of Biological Chemistry 2nd edition X 624 630 54 Winter L and Wiche G 2013 The many faces of plectin and plectinopathies Pathology and mechanisms Acta Neuropathologica 125 77 93 53 Fürst DO Goldfarb LG Kley RA Vorgerd M Olivé M van der Ven PF Filamin C related myopathies pathology and mechanisms Acta Neuropathol 2013 Jan 125 1 33 46 Epub 2012 Oct 30 JIF 9 8 52 Kley RA Maerkens A Leber Y Theis V Schreiner A van der Ven PFM Uszkoreit J Stephan C Eulitz S Euler N Kirschner J Müller K Meyer HE Tegenthoff M Fürst DO Vorgerd M Müller T Marcus K A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients Mol Cell Proteomics 2013 Jan 12 1 215 27 Epub 2012 Oct 31 JIF 7 3 51 Kley RA van der Ven PF Olivé M Höhfeld J Goldfarb LG Fürst DO Vorgerd M Impairment of protein degradation in myofibrillar myopathy caused by FLNC filamin C mutations Autophagy 2013 Mar 1 9 3 422 3 Epub 2012 Dec 13 JIF 11 4 50 Maerkens A Kley RA Olivé M Theis V van der Ven PFM Reimann J Milting H Schreiner A Uszkoreit J Eisenacher M Barkovits K Güttsches AK Tonillo J Kuhlmann K Meyer HE Schröder R Tegenthoff M Fürst DO Müller T Goldfarb LG Vorgerd M Marcus K Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy J Proteomics 2013 Sep 2 90 14 27 Epub 2013 Apr 30 shared first authorship JIF 3 9 49 Eulitz S Sauer F Pelissier MC Boisguerin P Molt S Schuld J Orfanos Z Kley RA Volkmer R Wilmanns M Kirfel G van der Ven PFM Fürst DO Identification of Xin repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling Mol Biol Cell 2013 Oct 24 20 3215 26 Epub 2013 Aug 28 JIF 4 5 48 Olivé M Kley RA Goldfarb LG Myofibrillar myopathies new developments Curr Opin Neurol 2013 Oct 26 5 527 535 Epub 2013 Aug 29 JIF 5 7 47 Nilsson M Nissar AA Al Sajee D Tarnopolsky MA Parise G Lach B Fürst DO van der Ven PFM Kley RA Hawke TJ Xin is a marker of skeletal muscle damage severity in myopathies Am J Pathol 2013 Dec 183 6 1703 9 Epub 2013 Nov 11 JIF 4 6 46 Joshi PR Hauburger A Kley R Claeys KG Schneider I Kress W Stoltenburg G Weis J Vorgerd M Deschauer M and Hanisch F Mitochondrial abnormalities in myofibrillar myopathies Clin Neuropathol 2014 Mar Apr 33 2 134 42 Epub 2013 Dec 23 JIF 1 3 45 Goldmann WH Auernheimer V Thievessen I Fabry B Vinculin cell mechanics and tumour cell invasion Cell Biol Int 2013 May 37 5 397 405 44 Lange J Auernheimer V Strissel PL Goldmann WH Influence of focal adhesion kinase on the mechanical behavior of cell populations Biochem Biophys Res Commun 2013 436 2 246 51 43 Schröder R Clemen CS Desminopathies In Goebel HH Sewry CA Weller RO eds Muscle Disease Pathology and Genetics 2nd edition ISN Neuropath Press 2013 ISBN 978 0 470 67205 1 42 Müller Taubenberger A A Kortholt and L Eichinger 2013 Simple System Substantial Share The use of Dictyostelium in cell biology and molecular medicine Eur J Cell Biol 92 45 53 41 Baker LK Gillis DC Sharma S Ambrus A Herrmann H Conover GM 2013 Nebulin binding impedes mutant desmin filament assembly Mol Biol Cell 24 1918 1932 40 Clemen CS Herrmann H Strelkov SV Schröder R 2013 Desminopathies pathology and mechanisms Acta Neuropathol 125 47 75 Review FOR 1228 Publications 2012 39 Feldkirchner S Schessl J Müller S Schoser B Hanisch FG Patient specificprotein aggregates in myofibrillar myopathies lasermicrodissecand differential proteomics for identification of plaque components Proteomics 2012 Dec 12 23 24 3598 609 doi 10 1002 pmic 201100559 Epub 2012 Nov 5 PubMed PMID 23044792 38 Teperino R Amann S Bayer M McGee S L Loipetzberger A Connor T Jaeger C Kammerer B Winter L Wiche G Dalgaard K Selvaraj M Reiter J Gaster M Lee Young R S Febbraio M A Knauf C Cani P D Aberger F Penninger J M Pospisilik J A and Esterbauer H 2012 Hedgehog partial agonism drives Warburg like metabolism in muscle and brown fat Cell 151 1 13 37 Thomsen C Udhane S Runnberg R Wiche G Ståhlberg and A Åman P 2012 Fused in Sarcoma FUS interacts with the cytolinker protein plectin implications for FUS subcellular localization and function Experimental Cell Research 318 653 661 36 Kley RA Serdaroglu Oflazer P Leber Y Odgerel Z van der Ven PF Olivé M Ferrer I Onipe A Mihaylov M Bilbao JM Lee HS Höhfeld J Djinovic Carugo K Kong K Tegenthoff M Peters SA Stenzel W Vorgerd M Goldfarb LG Fürst DO Pathophysiology of protein aggregation and extended phenotyping in filaminopathy Brain 2012 Sep 135 Pt 9 2642 60 JIF 10 2 35 Goldmann WH Mechanotransduction in cells Cell Biol Int 2012 36 6 567 70 34 Goldmann WH Mechanotransduction and focal adhesions Cell Biol Int 2012 36 7 649 52 33 Alonso JL Goldmann WH Influence of divalent cations on the cytoskeletal dynamics of K562 cells determined by nano scale bead tracking Biochem Biophys Res Commun 2012 421 2 245 8 32 Bonakdar N Luczak J Lautscham L Czonstke M Koch TM Mainka A Jungbauer T Goldmann WH Schröder R Fabry B Biomechanical characterization of a desminopathy in primary human myoblasts Biochem Biophys Res Commun 2012 419 4 703 7

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/publication.aspx (2016-02-17)
    Open archived version from archive

  • Pages - symposium
    multi scale approach 16 50 17 00 Z2 R Schröder Erlangen Coordination Project 17 00 17 30 Q A 17 30 19 30 1 st Review Panel meeting Kaisersaal 1 20 00 Dinner Restaurent Grünnewig Residence Hotel FOR1228 Colloquium Program Date Tuesday July 3rd 2012 Location Grünnewig Residence Hotel Kaiserplatz 11 53113 Bonn Kaisersaal III und IV Basement level 8 30 8 50 FOR1228 Achievements Development Outlock R Schröder Erlangen 8 50 9 20 Q A 9 20 11 00 Poster Presentation 11 00 13 00 2 nd Review Panel meeting Kaisersaal 1 13 00 Light lunch offered to Reviewers Kaisersaal 1 departure Probekolloquium FOR1228 19 20 04 2012 im Uni Club Bonn Thursday 19 04 2012 13 00 13 15 Introduction R Schröder Erlangen 13 15 14 00 Biomechanics of MFM a multiscale approach Z2 Projekt O Friedrich Erlangen G Pfitzer Cologne B Fabry Erlangen 14 00 14 45 P2 Filamin C myopathy from pathogenic mutations towards novel targeted treatment concepts D O Fürst Bonn R A Kley Bochum 14 45 15 30 Coffee Break 15 30 16 15 P4 Impact of MFM disease mutations on the assembly mechanisms and network formation of muscle specific intermediate filament proteins H Herrmann Lerdon Heidelberg 16 15 17 00 P6 Knockout mice and myocyte cell models to study the pathogenesis and phenotype rescue of muscular plectinopathies G Wiche Vienna 17 00 17 15 Coffee Break 17 15 18 00 P3 Dynamics and architecture of physiological and pathological desmin complexes in cellular and molecular models of MM Characterization by multicolor imaging and confocal single particle Fluorescence M C Walter A Giese Munich 18 00 18 30 P1 Identification of novel and disease related VCP p97 binding partners and effects of disease causing VCP p97 mutations on protein interactions and protein quality control system in dictyostelium and mouse C S Clemen L Eichinger Cologne R Schröder Erlangen 18 30 Dinner Uni Club Friday 20 04 2012 09 00 09 45 P7 Functional genomics in zebrafish to dissect the pathogenesis and phenotype rescue of muscular plectinopathies W Rottbauer S Just Ulm 09 45 10 30 P8 Desmin cardiac myopathy molecular pathogenesis and novel treatment concepts O Müller Heidelberg C Clemen Cologne R Schröder Erlangen 10 30 11 00 Central protein analysis Z1 Projekt F G Hanisch S Müller Cologne K Marcus Bochum 11 00 11 30 Coffee Break 11 30 12 30 P5 Aggregate component proteomics and transcriptomics of FHL1opathies and unclassified MM J Schessl B Schoser Munich W Kress Würzburg 12 30 13 00 Coordination project Z3 Projekt R Schröder Erlangen Forschergruppentreffen FOR1228 13 14 10 2011 in Bonn Donnerstag 13 10 2011 13 00 13 15 Begrüßung Prof Dr R Schröder Erlangen 13 15 13 45 Biomechanische Aspekte von Myoblasten aus Plectin knock out Mäusen und MFM Patienten Prof Dr W Goldmann Erlangen 13 45 14 15 Biomechanische Aspekte von isolierten Muskelfasern Prof Dr O Friedrich Erlangen 14 15 14 45 Biomechanische Eigenschaften von isolierten Myofibrillen Prof Dr G Pfitzer Dr R Stehle Köln 14 45 15 00 Pause 15 00 15 30 AAV Vektoren zur Gentherapie bei Kardiomyopathien und Myopathien PD Dr O Müller Heidelberg 15 30 16 00 Analysis of Protein Interactions and Aggregation by Confocal Single Particle Fluorescence Prof Dr A Giese München 16 00 16 30 Pause 16 30 17 00 Teilprojekt 1 Update und Perspektiven PD Dr C Clemen Köln 17 00 17 30 Teilprojekt 7 Update und Perspektiven Prof Dr G Wiche Wien 17 30 18 00 Z1 Projekt Update und Perspektiven Prof Dr F G Hanisch Köln 18 00 Ende 19 00 Gemeinsames Abendessen im Restaurant Roses Freitag 14 10 2011 09 00 09 30 Teilprojekt 2 Update und Perspektiven Prof Dr D O Fürst Bonn 09 30 10 00 Teilprojekt 3 Update und Perspektiven Prof Dr L Eichinger Köln 10 00 10 15 Pause 10 15 10 45 Teilprojekt 4 Update und Perspektiven Dr C Thirion München 10 45 11 15 Teilprojekt 6 Update und Perspektiven Prof Dr B Schoser Dr J Schessl München 11 15 11 30 Pause 11 30 12 00 Genetische Diagnostik bei MFM Dr W Kress Würzburg 12 00 12 30 Teilprojekt 8 Update und Perspektiven Prof Dr W Rottbauer Dr S Just Ulm 12 30 1300 FOR1228 Folgeantrag Wann Wer Was Wie Prof Dr R Schröder Erlangen 13 00 Ende Cross striated Muscle in Health and Disease Bonn May 18 20 2011 Joint Meeting of DFG Research Groups For 1228 For 1352 KFO 192 and the MD NET BMBF Wednesday 18 05 2011 12 45 13 00 Welcome D Fürst M Vorgerd 13 00 15 00 Scientific Session 1 Structure an Composition of Myofibrillar Z discs 13 00 13 15 Fürst Structure and function of the Z disc 13 15 13 30 Warscheid Z disc proteomics 13 30 13 45 Wilmanns Structure of myofibrillar protein complexes 13 45 14 00 Frangakis Structural investigation of the Z disc 14 00 14 15 Stehle Pfitzer Z disc mechanotransduction 14 15 14 30 Gotthard Radke Titin in Z disc assembly and mechanotransduction 14 30 14 45 Frey Characterization of CEFIP 15 00 15 30 Coffee Break 15 30 16 30 External Speaker Thomas Voit Paris 16 45 18 45 9 MD NET Meeting MD NET Verstetigung nationaler und europäischer Strukturen Moderation M Walter J Kirschner M Vorgerd Bericht über die Verstetigungsaktivitäten nationaler Strukturen M Walter Bericht über die Verstetigung europäischer Strukturen J Kirschner Diskussion und Abstimmung über weitere Aktivitäten 19 00 Dinner 20 00 21 00 Oversight Committee Meeting closed session Thursday 19 05 2011 09 00 10 45 Scientific Session 2 Desmin Plectin and Lamin related Diseases 09 00 09 15 Schröder Introduction clinics and myopathology 09 15 09 30 Herrmann Desmin filament assembly 09 30 09 45 Clemen Characterization of the skeletal muscle pathology in a R350P desmin knock in mouse a model for human desminopathies 09 45 10 00 Schessel Schoser Desminopathy proteomics 10 00 10 15 Thirion Walter SIFT analysis of desmin 10 15 10 30 Wiche Plectin mouse

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/symposium.aspx (2016-02-17)
    Open archived version from archive

  • Pages - joboffers
    collective of the university hospital Using these small compound screens the gained scientific knowledge can provide therapeutic approaches for the patients Please contact Prof Dr Steffen Just for further information Jun Prof Dr Steffen Just Molekulare Kardiologie Innere Medizin II Universitätsklinikum Ulm Albert Einstein Allee 23 D 89081 Ulm 49 731 500 45118 secretariat 49 731 500 45159 Fax steffen just uniklinik ulm de www justlab de Job offer Erlangen Postdoc position in the field of Neurology Myofibrillar Myopathies A Postdoc position TV L E13 is available in the group of Prof Dr R Schröder at the Institute for Neuropathology University Hospital Erlangen The central aim of this Fresenius Stiftung funded project is the elucidation of the complex filamin C and desmin related pathophysiology Mutations of the human filamin C and the desmin gene cause autosomal dominant myopathy that affects skeletal and cardiac muscles The vast majority of patients have an adult onset of their progressive muscle symptoms with slowly progressive weakness and atrophy of the lower extremities and frequently respiratory insufficiency Cardiac involvement includes left ventricular hypertrophy right bundle branch block and diastolic dysfunction Cardiac and skeletal muscles from patients with filaminopathies and desminopathies are morphologically characterized by sarcoplasmatic pathological protein aggregates consisting of desmin immunoreactive material and myofibrillar changes Filaminopathies share their myopathological characteristics with the large group of desmin positive protein aggregate myopathies and cardiomyopathies synonym myofibrillar myopathies which comprise sporadic and familial neuromuscular conditions of considerable clinical and genetic heterogeneity Further progress in our understanding of the filamin C and desmin related disease mechanisms has been hampered by the fact that muscle biopsies from affected patients reflect only late stages of the disease process and are available only in small amounts In addition human skeletal muscle samples from pre clinical early and intermediate stages are not

    Original URL path: http://www.myofibrillar-myopathies.com/Pages/joboffers.aspx (2016-02-17)
    Open archived version from archive



  •