Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1315, Issue 3, 1996, Pages 159-162

  Lubec, B ^a   Fang Kircher, S ^a   Lubec, T ^a   Blom, H J ^b   Boers, G H J ^b  

^a UNIVERSITY OF VIENNA   (Austria)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Collagen metabolism; Homocysteic acid; Homocysteine; Homocystinuria; Osteopenia; Osteoporosis; Procollagen peptide

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLLAGEN SYNTHESIS; CONTROLLED STUDY; FEMALE; HOMOCYSTINURIA; HUMAN; HUMAN TISSUE; HYPOTHESIS; MALE; OSTEOPOROSIS; PRIORITY JOURNAL; PROTEIN CROSS LINKING;

EID: 0029887713     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/0925-4439(95)00119-0     Document Type: Article

References (24)

1. Mudd, S.H., Skovby, F., Levy, H.L., Pettigrew, R.D. Wilcken, B., Pyeritz, R.E., Andria, G., Boers, G.H.J., Bromberg, I.L., Cerone, R., Fowler, B., Groebe, H., Schmidt, H. and Schweitzer, L. (1985) Am. J. Human Genet 37, 1-31.
2. McKusick, V.A. (1966) Heritable Disorders of Connective Tissue. 3rd edition, p. 155, C.V. Mosby, St. Louis.
3. Harris, E.D. Jr. and Sjoerdsma, A. (1966) Lancet 2, 707-711.
4. Kang, A.H. and Trelstad, R.L. (1973) J. Clin. Invest. 52, 2571-2578.
5. Jackson, S.H. (1973) Clin. Chim. Acta 45, 215-217.
6. Siegel, R.D. (1977) J. Biol. Chem. 252, 254-259.
7. Simons, E.R., Chesney, C.M., Colamn, R.W., Harper, E. and Samberg, E. (1975) The effect of the conformation of collagen on its ability to aggregate platelets Thromb Res. 7, 123-139.
8. Lindberg, K.A., Hassett, A. and Pinnell, S.R. (1976) Clin. Res. 24, 265.
9. Mudd, S.H., Levy, H.L. and Skovby, F. (1995) Disorders of transsulfuration. In: The Metabolic and Molecular Basis of Inherited Disease (Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. eds.), McGraw Hill, New York, pp. 1279-1326.
10. Engbersen, A.M.T., Franken D.G., Boers, G.H.J., Stevens, E.M.B., Trijbels, F.J.M. and Blom, H.J. (1995) Am. J. Human Genet. 56, 142-150.
11. Fermo, I., Arcelloni, E., De Vecchi, S., Vigano S. and Paroni, R. (1992) J. Chromatogr. 593, 171-176.
12. Bartosch, B., Vycudilik, W., Popow, C. and Lubec. G. (1991) Arch. Dis. Child. 66, 248-251.
13. SAS User's Guide: Statistics (1985) Version 5th edn., SAS Institute, Cary, NC.
14. Smedsrod B., Melkko, J. Risteli, L. and Risteli, J. (1990) Biochem. J. 271, 345-350.
15. Francini, G., Conelli, S., Petrioli, R., Bruni, S., Marsili, S., Aquino, A. and Camporeale, A. (1993) Cancer Epidemiol. 2, 125-129.
16. Hassager, C., Jenssen, L.T., Johansen, J.S., Riis, B.J., Melkko, J., Poedenphant, J., Risteli, L., Christiansen, C. and Risteli, J. (1991) Metabolism 40, 205-208.
17. Brenner, R.E., Schiller, B., Vetter, U., Ittner, J. and Teller, W.M. (1993) Acta Pediatr. 82, 764-767.
18. Oikarinen, A. (1992) Br. J. Dermatol. 126, 172-178.
19. Charles, P., Mosekilde, L., Risteli, L., Risteli, J. and Eriksen, E.F. (1994) Bone Miner. 24, 81-94.
20. Eriksen, E.F., Charles, P., Melzen, F., Mosekilde, L., Risteli, L. and Risteli, J. (1993) J. Bone Miner. Res. 8, 127-132.
21. Hakala, M., Risteli, L., Manelius, J., Nieminen, P. and Risteli, J. (1993) Ann. Rheum. Dis. 52, 866-869.
22. Elomaa, I., Virkunnen, P., Risteli, L. and Risteli, J. (1992) Br. J. Cancer 66, 337-341.
23. Mon Li Chu and Prockop, D.J. (1993) Collagen: Gene Structure. In: Connective Tissue and its Heritable Disorders (Royce, P.M. and Steinmann, B., eds.), Wiley Liss, New York, pp. 149-165.
24. Ueland, P.M. and Refsum, H. (1989) Plasma homocysteine, a risk factor for vascular disease. J. Lab. Clin. Med. 114, 473-501.