A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine

Archives of Biochemistry and Biophysics

Volumn 347, Issue 1, 1997, Pages 126-131

  Yeowell, Heather N ^a   Walker, Linda C ^a   Murad, Saood ^a   Pinnell, Sheldon R ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Ascorbate; Ehlers Danlos Syndrome type VI; Gene duplication; Human skin fibroblasts; Hydralazine; Lysyl hydroxylase regulation; , ' dipyridyl

Indexed keywords

2,2' BIPYRIDINE; ASCORBIC ACID; HYDRALAZINE; MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE DUPLICATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

EID: 0031282588     PISSN: 00039861     EISSN: None     Source Type: Journal    
DOI: 10.1006/abbi.1997.0319     Document Type: Article

References (32)

1. Pinnell S. R., Murad S. The Metabolic Basis of Inherited Disease. 1983;McGraw-Hill, New York. p. 1425-1449.
2. Steinmann B. R., Gitzelmann R., Vogel A., Grant M. E., Harwood R., Sear C. H. J. Helv. Paediatr. Acta. 30:1975;255-274.
3. Yeowell H. N., Pinnell S. R. Semin. Dermatol. 12:1993;229-240.
4. Wenstrup R. J., Murad S., Pinnell S. R. J. Pediatr. 115:1989;405-409.
5. Pinnell S. R., Krane S. M., Kenzora J. E., Glimcher M. J. N. Engl. J. Med. 286:1972;1013-1020.
6. Murad S., Pinnell S. R. J. Biol. Chem. 262:1987;11973-11978.
7. Kivirikko K. I., Myllyla R. Freedman R. B., Hawkins H. C. The Enzymology of Post-Translational Modifications of Proteins. 1980;53-104 Academic Press, London.
8. Myllyla R., Pajunen L., Kivirikko K. I. Biochem. J. 253:1988;489-496.
9. Hautala T., Byers M. G., Eddy R. L., Shows T. B., Kivirikko K. I., Myllyla R. Genomics. 13:1992;62-69.
10. Yeowell H. N., Ha V. T., Clark W. L., Marshall M. K., Pinnell S. R. J. Invest. Dermatol. 102:1994;382-384.
11. Yeowell H. N., Ha V., Walker L. C., Murad S., Pinnell S. R. J. Invest. Dermatol. 99:1992;864-869.
12. Valtavaara M., Papponen H., Pirttila A. M., Hiltunen K., Helander H., Myllyla R. J. Biol. Chem. 272:1997;6831-6834.
13. Heikkinen J., Hautala T., Kivirikko K. I., Myllyla R. Genomics. 24:1994;464-471.
14. Hyland J., Ala-Kokko L., Royce P., Steinmann B., Kivirikko K. I., Myllyla R. Nature Genet. 2:1992;228-231.
15. Ha V. T., Marshall M. K., Elsas L. J., Pinnell S. R., Yeowell H. N. J. Clin. Invest. 93:1994;1716-1721.
16. Yeowell H. N., Walker L. C. Proc. Assoc. Am. Phys. 109:1997;383-396.
17. Pousi B., Hautala T., Heikkinen J., Pajunen L., Kivirikko K. I., Myllyla R. Am. J. Hum. Genet. 55:1994;899-906.
18. Hautala T., Heikkinen J., Kivirikko K. I., Myllyla R. Genomics. 15:1993;399-404.
19. Heikkinen J., Toppinen T., Yeowell H. N., Krieg T., Steinmann B., Kivirikko K. I., Myllyla R. Am. J. Hum. Genet. 60:1997;48-56.
20. Murad S., Tajima S., Pinnell S. R. Arch. Biochem. Biophys. 241:1985;356-363.
21. Yeowell H. N., Walker L. C., Marshall M. K., Murad S., Pinnell S. R. Arch. Biochem. Biophys. 321:1995;510-516.
22. Murad S., Sivarajah A., Pinnell S. R. Coll. Rel. Res. 3:1983;511-515.
23. Murad S., Sivarajah A., Pinnell S. R. J. Invest. Dermatol. 75:1980;404-407.
24. Murad S., Sivarajah A., Pinnell S. R. Connect. Tissue Res. 13:1985;181-186.
25. Bradford M. M. Anal. Biochem. 72:1976;248-254.
26. Chomczynski P., Sacchi N. Anal. Biochem. 162:1987;156-159.
27. Barbu V., Dautry F. Nucleic Acids Res. 262:1989;7115.
28. Myllyla R., Gunzler V., Kivirikko K. I., Kaska D. D. Biochem. J. 286:1992;923-927.
29. Maquat L. E. RNA. 1:1995;453-465.
30. Phillips C. L., Combs S. B., Pinnell S. R. J. Invest. Dermatol. 103:1994;228-232.
31. Dembure P. P., Janko A. R., Priest J. H., Elsas L. J. Metab. Clin. Exp. 36:1987;687-691.
32. Byers P. H. Scriver C. R., Beaudet A. L., Sly W. S. The Metabolic and Molecular Basis of Inherited Disease. 1995;4029-4077 McGraw-Hill.