A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization

FASEB Journal

Volumn 22, Issue 9, 2008, Pages 3318-3327

  Mavroidis, Manolis ^a   Panagopoulou, Panagiota ^a   Kostavasili, Ioanna ^a   Weisleder, Noah ^a,b   Capetanaki, Yassemi ^a,c  

^a BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^c NONE   (Greece)

Author keywords

IF proteolysis; Intercalated discs; Transgenic mice

Indexed keywords

DESMIN; PROTEINASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; HEART; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TRANSGENIC MOUSE;

AMINO ACID SEQUENCE; ANIMALS; CARDIOMYOPATHY, DILATED; DESMIN; HUMANS; MICE; MICE, TRANSGENIC; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCYTES, CARDIAC; PROTEIN STRUCTURE, TERTIARY;

ANIMALIA; MUS MUSCULUS;

EID: 51349101743     PISSN: 08926638     EISSN: None     Source Type: Journal    
DOI: 10.1096/fj.07-088724     Document Type: Article

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