TMEM43 mutation p.s358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy

PLoS ONE

Volumn 9, Issue 10, 2014, Pages

  Siragam, Vinayakumar ^a   Cui, Xuezhi ^a   Masse, Stephane ^b   Ackerley, Cameron ^a   Aafaqi, Shabana ^a   Strandberg, Linn ^a   Tropak, Michael ^a   Fridman, Michael D ^a   Nanthakumar, Kumaraswamy ^b   Liu, Jun ^c   Sun, Yu ^a   Su, Bin ^a   Wang, Caroline ^a   Liu, Xiaoru ^a   Yan, Yuqing ^a   Mendlowitz, Ariel ^a   Hamilton, Robert M ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CATENIN; CONNEXIN 43; INTERCALATED DISC PROTEIN; JUNCTIONAL PLAKOGLOBIN; MEMBRANE PROTEIN; PROTEIN ZO1; UNCLASSIFIED DRUG; TMEM43 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CELL JUNCTION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOPLASM; DOWN REGULATION; ELECTRIC CONDUCTIVITY; GENE MUTATION; HEART MUSCLE CELL; HEART RIGHT VENTRICLE DYSPLASIA; NONHUMAN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; TRANSMEMBRANE PROTEIN 43 GENE; BIOSYNTHESIS; DESMOSOME; ENDOPLASMIC RETICULUM; GAP JUNCTION; GENE EXPRESSION REGULATION; GENETICS; HEART MUSCLE; HUMAN; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHOSPHORYLATION;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CYTOPLASM; DESMOSOMES; ENDOPLASMIC RETICULUM; GAP JUNCTIONS; GENE EXPRESSION REGULATION; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; MYOCARDIUM; PHOSPHORYLATION;

EID: 84908396859     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0109128     Document Type: Article

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