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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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van Kuilenburg, A.B. et al.

van Kuilenburg, Meinsma, Assman, Hoffman, Voit, Ribes, Lorente, Busch, Mayatepek, Abeling, Wevers, Rutsch, van Gennip,

Genetic Analysis of the First 4 Patients with beta-Ureidopropionase Deficiency.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.[1]

References

Genetic Analysis of the First 4 Patients with beta-Ureidopropionase Deficiency. van Kuilenburg, A.B., Meinsma, R., Assman, B., Hoffman, G.F., Voit, T., Ribes, A., Lorente, I., Busch, R., Mayatepek, E., Abeling, N.G., Wevers, R.A., Rutsch, F., van Gennip, A.H. Nucleosides Nucleotides Nucleic Acids (2006) [Pubmed]

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