Studies on type I collagen in skin fibroblasts cultured from twins with lethal osteogenesis imperfecta

Acta Biochimica Polonica

Volumn 50, Issue 2, 2003, Pages 481-488

  Galicka, Anna ^a   Wołczyński, Sławomir ^a   Gindzieński, Andrzej ^a  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

Osteogenesis imperfecta; Type I collagen

Indexed keywords

ASPARTIC ACID; CLOSTRIDIOPEPTIDASE A; COLLAGEN TYPE 1; HISTIDINE; PROCOLLAGEN; PROLINE DERIVATIVE; TRYPSIN;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BIOSYNTHESIS; CELL CULTURE; CELL MIGRATION; CELL SECRETION; CONTROLLED STUDY; HUMAN; HUMAN CELL; HUMAN TISSUE; OSTEOGENESIS IMPERFECTA; POLYACRYLAMIDE GEL ELECTROPHORESIS; SKIN FIBROBLAST; TEMPERATURE;

BACTERIA (MICROORGANISMS);

EID: 0041379636     PISSN: 0001527X     EISSN: None     Source Type: Journal    
DOI: 10.18388/abp.2003_3700     Document Type: Article

References (21)

1. Bachinger HP, Morris NP, Davis JM. (1993) Thermal stability and folding of the collagen triple-helix and the effects of mutations in osteogenesis imperfecta on the triple-helix of type I collagen. Am J Med Genet.; 45: 152-62.
2. Batge B, Notbohm H, Diebold J, Lehmann H, Bodo M, Deutzmann R, Muller PK. (1990) A critical crosslink region in human-bone-derived collagen type I. Specific cleavage site at residue Leu95. Eur J Biochem.; 192: 153-9.
3. Beck K, Chan VC, Shenoy N, Kirkpatrick A, Ramshaw JAM, Brodsky B. (2000) Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine. Proc Natl Acad Sci U S A.; 93: 4273-8.
4. Berg RA, Prockop DJ. (1973) The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen. Biochem Biophys Res Commun.; 52: 115-20.
5. Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. (1985) Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem.; 260: 1734-42.
6. Byers PH. (1993) Osteogenesis imperfecta. In Connective tissue and its heritable disorders: molecular, genetic and medical aspects. Royce PM, Steinmann B, eds, pp 317-50. Wiley-Liss, New York.
7. Byers PH. (2001) Folding defects in fibrillar collagens. Philos Trans R Soc London, Ser B.; 356: 151-8.
8. Cole WG. (1997) The molecular pathology of osteogenesis imperfecta. Clin Orthop.; 343: 235-48.
9. Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV. (1999) Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet.; 65: 308-17.
10. Gajko-Galicka A. (2002) Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Polon.; 49: 433-41.
11. Galicka A, Wolczynski S, Lesniewicz R, Chyczewski L, Gindzienski A. (2002) A novel Gly to Arg substitution at position 388 of the 1 chain of type I collagen in lethal form of osteogenesis imperfecta. Acta Biochim Polon.; 49: 443-50.
12. Kuivaniemi H, Tromp G, Prockop DJ. (1991) Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J.; 5: 2052-60.
13. Kuznetsova N, McBride DJ Jr, Leikin S. (2001) Osteogenesis imperfecta murine: interactions between type I collagen homotrimers. J Mol Biol.; 309: 807-15.
14. Laemmli UK. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature.; 227: 680-5.
15. McLaughlin SH, Bulleid NJ. (1998) Molecular recognition in procollagen chain assembly. Matrix Biol.; 16: 369-77.
16. Peterkofsky B, Chojkier M, Bateman J. (1982) Determination of collagen synthesis in tissue and cell culture system. In Immunochemistry of the extracellular matrix. Furthmay M, ed, pp 19-47. CRC Press, Boca Raton, Fl.
17. Prockop DJ. (1992) Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med.; 326: 540-6.
18. Sanger F, Nicklin S, Coulson AR. (1997) DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci U S A.; 74: 5463-7.
19. Sillence DO, Senn A, Danks DM. (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet.; 16: 101-16.
20. Tuderman L, Prockop DJ. (1982) Procollagen N-proteinase. Properties of the enzyme purified from chick embryo tendons. Eur J Biochem.; 125: 545-9.
21. Veis A, Payne K. (1988) Collagen fibrillogenesis. In Collagen. Nimni ME, ed, vol 1, pp 113-37. CRC Press, Boca Raton, Fl.