Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations

Circulation: Cardiovascular Genetics

Volumn 5, Issue 4, 2012, Pages 400-411

  Kirchner, Florian ^b   Schuetz, Anja ^a,b   Boldt, Leif Hendrik ^c   Martens, Kristina ^c   Dittmar, Gunnar ^b   Haverkamp, Wilhelm ^c   Thierfibroer, Ludwig ^b   Heinemann, Udo ^a,b,e   Gerull, Brenda ^b,d  

^a Helmholtz Protein Sample Production Facility   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF CALGARY   (Canada)

^e FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Desmosome; Gene expression; Mutation; Plakophilin 2; Structural modeling

Indexed keywords

COMPLEMENTARY DNA; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CRYSTALLIZATION; DESMOSOME; FEMALE; GENE EXPRESSION; GENE MUTATION; HEART ARRHYTHMIA; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; MOLECULAR MODEL; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CALPAIN; CELL LINE; CRYSTALLIZATION; DESMOPLAKINS; DESMOSOMES; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HETEROZYGOTE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION, MISSENSE; MYOCARDIUM; PEDIGREE; PLAKOPHILINS; PROTEIN BINDING; PROTEIN STABILITY; PROTEOLYSIS; REPETITIVE SEQUENCES, AMINO ACID; REPRODUCIBILITY OF RESULTS;

ARMADILLO; BACTERIA (MICROORGANISMS);

EID: 84868629412     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.961854     Document Type: Article

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