β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities-Reference-Cited by-同舟云学术

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

Published:2004-09-22 Issue:22 Volume:13 Page:2793-2801
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

van Kuilenburg André B.P.,Meinsma Rutger,Beke Eva,Assmann Birgit,Ribes Antonia,Lorente Isabel,Busch Rebekka,Mayatepek Ertan,Abeling Nico G.G.M.,van Cruchten Arno,Stroomer Alida E.M.,van Lenthe Henk,Zoetekouw Lida,Kulik Willem,Hoffmann Georg F.,Voit Thomas,Wevers Ron A.,Rutsch Frank,van Gennip Albert H.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/13/22/2793/1676851/ddh303.pdf

Reference34 articles.

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3. van Kuilenburg, A.B.P., Stroomer, A.E.M., van Lenthe, H., Abeling, N.G.G.M. and van Gennip, A.H. (2004) New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for β-aminoisobutyric acid? Biochem. J., 379, 119–124.

4. Shinohara, T., Harada, M., Ogi, K., Maruyama, M., Fujii, R., Tanaka, H., Fukusumi, S., Komatsu, H., Hosoya, M., Noguchi, Y. et al. (2004) Identification of a G protein-coupled receptor specifically responsive to beta-alanine. J. Biol. Chem., 279, 23559–23564.

5. Schmieden, V., Kuhse, J. and Betz, H. (1999) A novel domain of the inhibitory glycine receptor determining antagonist efficacies: further evidence for partial agonism resulting from self-inhibition. Mol. Pharmacol., 56, 464–472.

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