Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy

Journal of Biological Chemistry

Volumn 277, Issue 46, 2002, Pages 43557-43564

  Zhang, Rui Zhu ^a   Sabatelli, Patrizia ^b   Pan, Te Cheng ^a   Squarzoni, Stefano ^b   Mattioli, Elisabetta ^b   Bertini, Enrico ^c   Pepe, Guglielmina ^d   Chu, Mon Li ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; RNA;

MICROFIBRILLAR ASSEMBLY;

GENETIC ENGINEERING;

COLLAGEN TYPE 6; MESSENGER RNA; MICROCRYSTALLINE COLLAGEN;

ALLELISM; ARTICLE; CARBOXY TERMINAL SEQUENCE; CROSS LINKING; FIBROBLAST; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA DEGRADATION; RNA STABILITY; TRIPLE HELIX;

ALLELES; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; CELLS, CULTURED; COLLAGEN TYPE VI; EXONS; EXTRACELLULAR MATRIX; FAMILY HEALTH; FIBROBLASTS; HUMANS; MICROSCOPY, ELECTRON; MICROSCOPY, FLUORESCENCE; MICROSCOPY, IMMUNOELECTRON; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PRECIPITIN TESTS; PROTEIN STRUCTURE, TERTIARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0347722754     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M207696200     Document Type: Article

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