Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations
نویسندگان
چکیده
منابع مشابه
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fib...
متن کاملa fundamental study of "histiriographic metafiction", and "literary genres", as introduced in "new historical philosophy", and tracing them in the works of julian barnes.
abstract a fundamental study of “historio-graphic metafiction” and “literary genres”, as introduced in “new historical philosophy”, and tracing them in the works of julian barnes having studied the two novels, the porcupine and arthur & george, by julian barnes, the researcher has applied linda hutcheon’s historio-graphic metafictional theories to them. the thesis is divided into five cha...
15 صفحه اولCollagen VI, Conformation of A-domain Arrays and Microfibril Architecture
Collagen VI is a ubiquitous extracellular matrix protein that assembles into beaded microfibrils that form networks linking cells to the matrix. Collagen VI microfibrils are typically formed from a heterotrimer of the α1, α2, and α3 chains. The α3 chain is distinct as it contains an extended N terminus with up to 10 consecutive von Willebrand factor type A-domains (VWA). Here, we use solution s...
متن کاملCollagen VI-related myopathy
Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...
متن کاملDominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2002
ISSN: 0021-9258
DOI: 10.1074/jbc.m109932200