The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death

Circulation: Cardiovascular Genetics

Volumn 6, Issue 6, 2013, Pages 615-623

  Brodehl, Andreas ^a,i   Dieding, Mareike ^b   Klauke, Bärbel ^a   Dec, Eric ^c   Madaan, Shrestha ^c   Huang, Taosheng ^d   Gargus, John ^c   Fatima, Azra ^e   Šaric, Tomo ^e   Cakar, Hamdin ^f   Walhorn, Volker ^b   Tönsing, Katja ^b   Skrzipczyk, Tim ^a   Cebulla, Ramona ^a   Gerdes, Désirée ^a   Schulz, Uwe ^a   Gummert, Jan ^a   Svendsen, Jesper Hastrup ^g,h   Olesen, Morten Salling ^g,h   Anselmetti, Dario ^b   Christensen, Alex Hørby ^g,h   Kimonis, Virginia ^c   Milting, Hendrik ^a   more..

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b BIELEFELD UNIVERSITY   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^e UNIVERSITY OF COLOGNE   (Germany)

^f PHYSIKALISCH TECHNISCHE BUNDESANSTALT   (Germany)

^g Rigshospitalet   (Denmark)

^h DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

ⁱ UNIVERSITY OF CALGARY   (Canada)

Author keywords

Arrhythmias; Cardiac; Cardiomyopathies; Death sudden; Desmin; Desmosomes; Intermediate filaments

Indexed keywords

DESMIN; MUTANT PROTEIN; RECOMBINANT PROTEIN;

ADULT; ARTICLE; ATOMIC FORCE MICROSCOPY; ATRIOVENTRICULAR CONDUCTION; CELL AGGREGATION; CELL CLONING; CELLULAR DISTRIBUTION; CODON; COLOR ULTRASOUND FLOWMETRY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CYTOPLASM; EBSTEIN ANOMALY; ELECTROCARDIOGRAM; EX VIVO STUDY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEART ARRHYTHMIA; HEART ATRIUM FLUTTER; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE EXTRASYSTOLE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; IN VITRO STUDY; INTERMEDIATE FILAMENT; M MODE ECHOCARDIOGRAPHY; MALE; MUTATIONAL ANALYSIS; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SITE DIRECTED MUTAGENESIS; SUDDEN CARDIAC DEATH;

ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHIES; DEATH, SUDDEN; DESMIN; DESMOSOMES; INTERMEDIATE FILAMENTS;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CELL LINE, TUMOR; DEATH, SUDDEN, CARDIAC; DESMIN; DESMOSOMES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HELA CELLS; HUMANS; INTERMEDIATE FILAMENTS; MALE; MICROSCOPY, ATOMIC FORCE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; MYOCARDIUM; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84892407305     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000103     Document Type: Article

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