Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin

Journal of Biological Chemistry

Volumn 278, Issue 30, 2003, Pages 28303-28311

  Elzaouk, Lina ^a   Leimbacher, Walter ^a   Turri, Matteo ^a,b   Ledermann, Birgit ^a   Bürki, Kurt ^a   Blau, Nenad ^a   Thöny, Beat ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b EUROPEAN PATENT OFFICE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOSYNTHESIS; BRAIN; DISEASES; INSULIN; METABOLISM; MUTAGENESIS; NEUROLOGY;

GROWTH FACTORS;

BIOCHEMISTRY;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; CATECHOLAMINE; DOPAMINE; NEUROTRANSMITTER; NITRIC OXIDE SYNTHASE; SEROTONIN; SOMATOMEDIN C; TETRAHYDROBIOPTERIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; CATECHOLAMINE SYNTHESIS; CHEMICAL ANALYSIS; CONTROLLED STUDY; DOPAMINE BRAIN LEVEL; DWARFISM; ENZYME ACTIVITY; FOOD INTAKE; GENE MUTATION; GROWTH RETARDATION; HYPERPHENYLALANINEMIA; KNOCKOUT MOUSE; MENTAL DISEASE; MOUSE; NEUROLOGIC DISEASE; NEUROTRANSMISSION; NONHUMAN; PRIORITY JOURNAL; SEROTONIN BRAIN LEVEL; SEXUAL MATURITY;

5-HYDROXYTRYPTOPHAN; ANIMALS; BIOPTERIN; BODY WEIGHT; CELL DIVISION; DOPAMINE; DWARFISM; GENE DELETION; GENETIC VECTORS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; INSULIN-LIKE GROWTH FACTOR I; KINETICS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, TRANSGENIC; NEUROTRANSMITTER AGENTS; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; PHENOTYPE; PHOSPHORUS-OXYGEN LYASES; POLYMERASE CHAIN REACTION; THYROXINE; TIME FACTORS;

ANIMALIA;

EID: 0041344529     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M303986200     Document Type: Article

References (46)

1. Blau, N., Thöny, B., Cotton, R. G. H., and Hyland, K. (2001) in The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., and Vogelstein, B., eds) 8th Ed., pp. 1725-1776, McGraw-Hill, New York
2. Zorzi, G., Thony, B., and Blau, N. (2002) J. Neurochem. 80, 362-364
3. Thöny, B., Auerbach, G., and Blau, N. (2000) Biochem. J. 347, 1-16
4. Harada, T., Kagamiyama, H., and Hatakeyama, K. (1993) Science 260, 1507-1510
5. Milstien, S., Jaffe, H., Kowlessur, D., and Bonner, T. I. (1996) J. Biol. Chem. 271, 19743-19751
6. Maita, N., Okada, K., Hatakeyama, K., and Hakoshima, T. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 1212-1217
7. Oppliger, T., Thöny, B., Nar, H, Bürgisser, D., Huber, R., Heizmann, C. W., and Blau, N. (1995) J. Biol. Chem. 270, 29498-29506
8. Scherer-Oppliger, T., Leimbacher, W., Blau, N., and Thöny, B. (1999) J. Biol. Chem. 274, 31341-31348
9. Fitzpatrick, P. F. (1999) Annu. Rev. Biochem. 68, 355-381
10. Scriver, C. R., Eisensmith, R. C., Woo, S. L. C., and Kaufman, S. (1994) Annu. Rev. Genet. 28, 141-165
11. Alderton, W. K., Cooper, C. E., and Knowles, R. G. (2001) Biochem. J. 357, 593-615
12. Thöny, B., and Blau, N. (1997) Hum. Mutat. 10, 11-20
13. Blau, N., Dhondt, J. L., Dianzani, I., and Thöny, B. (1997) in Chemistry and Biology of Pteridines and Folates (Pfleiderer, W., and Rokos, H., eds) pp. 719-726, Blackwell Science, Oxford, UK
14. Blau, N., Heizmann, C. W., Sperl, W., Korenke, G. C., Hoffmann, G. F., Smooker, P. M., and Cotton, R. G. H. (1992) Pediatr. Res. 32, 726-730
15. Thöny, B., Neuheiser, F., Kierat, L., Blaskovics, M., Arn, P. H., Ferreira, P., Rebrin, I, Ayling, J., and Blau, N. (1998)Am. J. Hum. Genet. 62,1302-1311
16. Thöny, B., Neuheiser, F, Kierat, L., Rolland, M. O., Guibaud, P., Schlüter, T., Germann, R., Heidenreich, R. A., Duran, M., de Klerk, J. B. C., Ayling, J. E., and Blau, N. (1998) Hum. Genet. 103, 162-167
17. Trefz, F. K., Aulela-Scholz, C., and Blau, N. (2001) Eur. J. Pediatr. 160, 315
18. Bonafe, L., Thony, B., Leimbacher, W., Kierat, L., and Blau, N. (2001) Clin. Chem. 47, 477-485
19. Blau, N., and Niederwieser, A. (1985) J. Clin. Chem. Clin. Biochem. 23, 169-176
20. Bonafe, L., Thony, B., Penzien, J. M., Czarnecki, B., and Blau, N. (2001) Am. J. Hum. Genet. 69, 269-277
21. Brand, M. P., Hyland, K., Engle, T., Smith, I., and Heales, S. J. R. (1996) J. Neurochem. 66, 1150-1156
22. Pardridge, W. M. (1998) J. Neurochem. 70, 1781-1792
23. Blau, N., Duran, M., Blaskovics, M. E., and Gibson, K. M. (eds) (2002) The Physicians's Guide to the Laboratory Diagnosis of Metabolic Diseases, pp. 89-106, Springer, New York, NY
24. Blau, N., Thöny, B., Heizmann, C. W., and Dhondt, J.-L. (1993) Pteridines 4, 1-10
25. Turri, M. O., Ilg, E. C., Thony, B., and Blau, N. (1998) Biol. Chem. 379, 1441-1447
26. Ramirez-Solis, R., Davis, A. C., and Bradley, A. (1993) Methods Enzymol. 225, 855-878
27. Shaper, N. L., Harduin-Lepers, A., and Shaper, J. H. (1994) J. Biol. Chem. 269, 25165-25171
28. Curtius, H.-C., Blau, N., and Kuster, T. (1991) in Techniques in Diagnostic Human Biochemical Genetics (Hommes, F. A., ed) pp. 377-396, Wiley-Liss, New York
29. Ledley, F. D., Grenett, H. E., and Woo, S. L. (1987) J. Biol. Chem. 262, 2228-2233
30. Bradford, M. M. (1976) Anal. Biochem. 72, 248-254
31. Oz, O. K., Hirasawa, G., Lawson, J., Nanu, L., Constantinescu, A., Antich, P. P., Mason, R. P., Tsyganov, E., Parkey, R. W., Zerwekh, J. E., and Simpson, E. R. (2001) J Steroid Biochem. Mol. Biol. 79, 49-59
32. Szczypka, M. S., Rainey, M. A., Kim, D. S., Alaynick, W. A., Marck, B. T., Matsumoto, A. M., and Palmiter, R. D. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 12138-12143
33. Zhou, Q. Y., and Palmiter, R. D. (1995) Cell 83, 1197-1209
34. Sumi-Ichinose, C., Urano, F., Kuroda, R., Ohye, T., Kojima, M., Tazawa, M., Shiraishi, H., Hagino, Y., Nagatsu, T., Nomura, T., and Ichinose, H. (2001) J. Biol. Chem. 276, 41150-41160
35. Dhondt, J. L., Delcroix, M., and Farriaux, J. P. (1982) Clin. Chim. Acta 121, 33-35
36. Smith, I., and Dhondt, J. L. (1985) Lancet 1, 818
37. Heales, S. J., Canevari, L., Brand, M. P., Clark, J. B., Land, J. M., and Hyland, K. (1999) J. Inherit. Metab. Dis. 22, 221-223
38. Tiefenbacher, C. P. (2001) Am. J. Physiol. 280, H2484-H2488
39. Klatt, P., Schmid, M., Leopold, E., Schmidt, K., Werner, E. R., and Mayer, B. (1994) J. Biol. Chem. 269, 13861-13866
40. Bartke, A. (2000) Results Probl. Cell Differ. 29, 181-202
41. Meguid, M. M., Fetissov, S. O., Varma, M., Sato, T., Zhang, L., Laviano, A., and Rossi-Fanelli, F. (2000) Nutrition 16, 843-857
42. Underwood, L. E. (1996) J. Pediatr. Endocrinol. Metab. 9, Suppl. 3, 303-312
43. Wellman, P. J. (2000) Nutrition 16, 837-842
44. Szczypka, M. S., Mandel, R. J., Donahue, B. A., Snyder, R. O., Leff, S. E., and Palmiter, R. D. (1999) Neuron 22, 167-178
45. Szczypka, M. S., Rainey, M. A., and Palmiter, R. D. (2000) Nat. Genet. 25, 102-104
46. Blau, N., Thöny, B., Renneberg, A., Penzien, J. M., Hyland, K., and Hoffmann, G. (1999) J. Inher. Metab. Dis. 22, 216-220