Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin- Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

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Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin- Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia Luisa Bonafé, Beat Thöny, Johann M. Penzien, Barbara Czarnecki, Nenad Blau The American Journal of Human Genetics Volume 69, Issue 2, Pages 269-277 (August 2001) DOI: 10.1086/321970 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Biosynthesis of tetrahydrobiopterin and proposed alternative routes in SR deficiency (for details, see text) The American Journal of Human Genetics 2001 69, 269-277DOI: (10.1086/321970) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Mutations in SPR, in patient 360 and in his father. B, Mutations in SPR and SR cDNA, in patient 229 and in his parents. The American Journal of Human Genetics 2001 69, 269-277DOI: (10.1086/321970) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Recombinant expression of wild-type and mutant R150G SR proteins in bacterial cells. A, SR activity assayed by determination of biopterin production with sepiapterin as substrate and with different amounts of soluble-protein extracts from E. coli expressing either the wild type, R150G, or no SR (vector control) from the expression vector pGEMEX. B, Western blot analysis using the same extracts as in panel A. Each lane contains 0.05 mg of total protein, and cross-reactive material was detected by use of a rabbit anti–mouse SR antibody (arrow). Note that, although the human recombinant SR is a 28-kD monomer, it runs at ∼34 kD in the 12.5% SDS-PAGE with the molecular-weight standard here used. The American Journal of Human Genetics 2001 69, 269-277DOI: (10.1086/321970) Copyright © 2001 The American Society of Human Genetics Terms and Conditions