A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
Tóm tắt
Từ khóa
Tài liệu tham khảo
Muntoni, 2004, The congenital muscular dystrophies in 2004: a century of exciting progress, Neuromuscul Disord, 14, 635, 10.1016/j.nmd.2004.06.009
Pan, 2003, New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype, Am J Hum Genet, 73, 355, 10.1086/377107
Lampe, 2005, Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy, J Med Genet, 42, 108, 10.1136/jmg.2004.023754
Baker, 2005, Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy, Hum Mol Genet, 14, 279, 10.1093/hmg/ddi025
Bonaldo, 1989, Alpha 1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains, J Biol Chem, 264, 5575, 10.1016/S0021-9258(18)83585-2
Bruns, 1986, Type VI collagen in extracellular, 100-nm periodic filaments and fibrils: identification by immunoelectron microscopy, J Cell Biol, 103, 393, 10.1083/jcb.103.2.393
Kuo, 1997, Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen, J Biol Chem, 272, 26522, 10.1074/jbc.272.42.26522
Bidanset, 1992, Binding of the proteoglycan decorin to collagen type VI, J Biol Chem, 267, 5250, 10.1016/S0021-9258(18)42759-7
Tillet, 2002, NG2 proteoglycan mediates B1 integrin-independent cell adhesion and spreading on collagen VI, J Cell Biochem, 86, 726, 10.1002/jcb.10268
Ishikawa, 2002, Ullrich disease: collagen VI deficiency. EM suggests a new basis for muscular weakness, Neurology, 24, 920, 10.1212/WNL.59.6.920
Niiyama, 2002, Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich’s disease, Acta Neuropathol, 104, 67, 10.1007/s00401-002-0522-z
Irwin, 2003, Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency, Nat Genet, 35, 367, 10.1038/ng1270
Mercuri, 2002, Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study, Neurology, 58, 1354, 10.1212/WNL.58.9.1354
Demir, 2004, Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci, Neuropediatrics, 35, 103, 10.1055/s-2004-815832
Higuchi, 2001, Frameshift mutation in the collagen VI gene causes Ullrich’s disease, Ann Neurol, 50, 261, 10.1002/ana.1120
Dubowitz, 2006
Vogel, 2001, Collagen-receptor signalling in health and disease, Eur J Dermatol, 11, 506
Heino, 2000, The collagen receptor integrins have distinct ligand recognition and signalling functions, Matrix Biol, 19, 3129, 10.1016/S0945-053X(00)00076-7
Tulla, 2001, Selective binding of collagen subtypes by integrin alpha 1I, alpha 2I, and alpha 10I domains, J Biol Chem, 276, 48206, 10.1074/jbc.M104058200
Scacheri, 2002, Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype, Neurology, 58, 593, 10.1212/WNL.58.4.593
Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby et al. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands. Neuromuscul Disord, 2002;12:889–96.
Higashi, 2006, Abnormal expression of proteoglycans in Ullrich’s disease with collagen VI deficiency, Muscle Nerve, 33, 120, 10.1002/mus.20449
Hu, 2002, Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich’s disease, Muscle Nerve, 26, 696, 10.1002/mus.10250
Squarzoni, 2006, Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains, J Cell Physiol, 206, 160, 10.1002/jcp.20443
Zhang, 2002, Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy, J Biol Chem, 277, 43557, 10.1074/jbc.M207696200
Camacho Vanegas, 2001, Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI, Proc Natl Acad Sci USA, 98, 7516, 10.1073/pnas.121027598
Brockington, 2004, Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry, Prenat Diagn, 24, 440, 10.1002/pd.902
Pepe, 1999, A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations’ screening of type VI collagen, Neuromuscul Disord, 9, 264, 10.1016/S0960-8966(99)00014-0
Lamande, 2002, Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations, J Biol Chem, 277, 1949, 10.1074/jbc.M109932200
Bulleid, 1997, The C-propeptide domain of procollagen can be replaced with a transmembrane domain without affecting trimer formation or collagen triple helix folding during biosynthesis, EMBO J, 16, 6694, 10.1093/emboj/16.22.6694
Engvall, 1986, Molecular assembly, secretion, and matrix deposition of type VI collagen, J Cell Biol, 102, 703, 10.1083/jcb.102.3.703