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

Acta Neuropathologica

Volumn 129, Issue 2, 2015, Pages 297-315

  Clemen, Christoph S ^a   Stöckigt, Florian ^b   Strucksberg, Karl Heinz ^a,c   Chevessier, Frederic ^c   Winter, Lilli ^c   Schütz, Johanna ^c   Bauer, Ralf ^d,e   Thorweihe, José Manuel ^b   Wenzel, Daniela ^f   Schlötzer Schrehardt, Ursula ^c   Rasche, Volker ^g,h   Krsmanovic, Pavle ⁱ   Katus, Hugo A ^d,e   Rottbauer, Wolfgang ^g   Just, Steffen ^g   Müller, Oliver J ^d,e   Friedrich, Oliver ^j   Meyer, Rainer ^f   Herrmann, Harald ⁱ   Schrickel, Jan Wilko ^b   Schröder, Rolf ^c   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^f UNIVERSITY OF BONN   (Germany)

^g UNIVERSITY HOSPITAL ULM   (Germany)

^h UNIVERSITY OF ULM   (Germany)

ⁱ GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^j UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

more..

Author keywords

Cardiac arrhythmia; Cardiac conduction defect; Desmin knock in mouse; Desminopathy; Extrasarcomeric intermediate filament network; Intermediate filament; Mechanical vulnerability; Mouse model; Mutant desmin; Protein aggregation cardiomyopathy; Protein aggregation myopathy; R350P desmin missense mutation; Skeletal muscle weakness

Indexed keywords

DESMIN; MESSENGER RNA; RECOMBINANT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELLULAR DISTRIBUTION; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CYTOSKELETON; ELECTROPHYSIOLOGY; GENE CONTROL; GENE EXPRESSION; HEART ARRHYTHMIA; HEART CONDUCTION; HEART HEMODYNAMICS; HEART MUSCLE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; MISSENSE MUTATION; MOUSE; MUSCLE CELL; MUSCLE WEAKNESS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; SKELETAL MUSCLE; TOXICITY; ANIMAL; CARDIAC MUSCLE; CARDIOMYOPATHY; DISEASE MODEL; ESCHERICHIA COLI; GENE TARGETING; GENETICS; HEART VENTRICLE; METABOLISM; MUSCULAR DYSTROPHY; PATHOLOGY; PATHOPHYSIOLOGY; SF9 CELL LINE; SPODOPTERA; TRANSGENIC MOUSE;

ANIMALS; ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CYTOSKELETON; DESMIN; DISEASE MODELS, ANIMAL; ESCHERICHIA COLI; GENE KNOCK-IN TECHNIQUES; HEART VENTRICLES; HUMANS; MICE, TRANSGENIC; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; MYOCARDIUM; RECOMBINANT PROTEINS; RNA, MESSENGER; SF9 CELLS; SPODOPTERA;

EID: 84925196702     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1363-2     Document Type: Article

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