Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 9, 2014, Pages 1604-1612

  Tagliavini, F ^a,b   Pellegrini, C ^b   Sardone, F ^a,b   Squarzoni, S ^a,b   Paulsson, M ^c   Wagener, R ^c   Gualandi, F ^d   Trabanelli, C ^d   Ferlini, A ^d   Merlini, L ^b   Santi, S ^a,b   Maraldi, N M ^a   Faldini, C ^e   Sabatelli, P ^a,b  

^a CNR   (Italy)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF FERRARA   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Collagen VI myopathies; Collagen VI 6 chain; Extracellular matrix; Fibrosis; TGF 1

Indexed keywords

COLLAGEN TYPE 6; COLLAGEN TYPE 6 ALPHA 6 CHAIN; TRANSFORMING GROWTH FACTOR BETA1; UNCLASSIFIED DRUG; COLLAGEN TYPE 6 ALPHA 6;

ARTICLE; BETHLEM MYOPATHY; CLINICAL ARTICLE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX; GENE; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; MYOSCLEROSIS MYOPATHY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UPREGULATION; HUMAN CELL; MUSCLE CELL; PHENOTYPE;

COLLAGEN VI MYOPATHIES; COLLAGEN VI Α6 CHAIN; EXTRACELLULAR MATRIX; FIBROSIS; TGF-Β1;

ADOLESCENT; ADULT; BLOTTING, WESTERN; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VI; CONTRACTURE; EXTRACELLULAR MATRIX; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOENZYME TECHNIQUES; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SCLEROSIS; TRANSFORMING GROWTH FACTOR BETA1; YOUNG ADULT;

EID: 84903896682     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2014.05.033     Document Type: Article

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