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Ureidopropionase, beta

beta-ureidopropionase, beta-alanine synthase, BUPI, UPB1
This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, HAD, fibrillin-1, CAN, STEP
Papers on beta-ureidopropionase
[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].
New
Huang et al., Tianjin, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Oct 2015
All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing.
Iron- and ferritin-dependent reactive oxygen species distribution: impact on Arabidopsis root system architecture.
New
Briat et al., Montpellier, France. In Mol Plant, Mar 2015
We observe that this interaction between excess Fe, ferritin, and root system architecture (RSA) is in part mediated by the H2O2/O2·- balance between the root cell proliferation and differentiation zones regulated by the UPB1 transcription factor.
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
New
Yan-wo Chan et al., Hong Kong, Hong Kong. In Clin Chim Acta, Mar 2015
BACKGROUND: Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism.
Identification of Circulating Biomarker Candidates for Hepatocellular Carcinoma (HCC): An Integrated Prioritization Approach.
Janjua et al., Islamabad, Pakistan. In Plos One, 2014
Finally, interactome analysis of these proteins with midkine (MDK), dickkopf-1 (DKK-1), current standard HCC biomarker alpha-fetoprotein (AFP), its interacting partners in conjunction with HCC-specific circulating and liver deregulated miRNAs target filtration highlighted seven novel statistically significant putative biomarkers including complement component 8, alpha (C8A), mannose binding lectin (MBL2), antithrombin III (SERPINC1), 11β-hydroxysteroid dehydrogenase type 1 (HSD11B1), alcohol dehydrogenase 6 (ADH6), beta-ureidopropionase (UPB1) and cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6).
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Hahn et al., Ch'angwŏn, South Korea. In Jimd Rep, 2014
β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway.
Dihydropyrimidinase and β-ureidopropionase gene variation and severe fluoropyrimidine-related toxicity.
Largiadèr et al., Bern, Switzerland. In Pharmacogenomics, 2014
AIMS: To assess the association of DPYS and UPB1 genetic variation, encoding the catabolic enzymes downstream of dihydropyrimidine dehydrogenase, with early-onset toxicity from fluoropyrimidine-based chemotherapy.
Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
Song et al., Tianjin, China. In Childs Nerv Syst, 2014
PURPOSE: The purpose of the study was to investigate mutations of the UPB1 gene in two Chinese families with β-ureidopropionase deficiency and the heterozygous carrier frequency in Chinese.
Iron and ferritin dependent ROS distribution impact Arabidopsis root system architecture.
Briat et al., Aberdeen, United Kingdom. In Mol Plant, 2014
We observe that this interaction between excess Fe, ferritin and RSA is in part mediated by the H2O2/O2 (.-) balance between the root cell proliferation and differentiation zones regulated by the UPB1 transcription factor.
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
van Kuilenburg et al., Amsterdam, Netherlands. In J Inherit Metab Dis, 2014
Conversely, βUP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene.
Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing.
Van Kuilenburg et al., In Nucleosides Nucleotides Nucleic Acids, 2013
Mutation analysis of the UPB1 gene showed that the patient was compound heterozygous for a novel synonymous mutation c.93C>T (p.Gly31Gly) in exon 1 and a previously described missense mutation c.977G>A (p.Arg326Gln) in exon 9.
Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.
Van Kuilenburg et al., Amsterdam, Netherlands. In Nucleosides Nucleotides Nucleic Acids, 2012
Mutation analysis of the UPB1 gene showed that the patient was compound heterozygous for a novel synonymous mutation c.93C >T (p.Gly31Gly) in exon 1 and a previously described missense mutation c.977G >A (p.Arg326Gln) in exon 9.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
GeneRIF
Hennekam et al., Amsterdam, Netherlands. In Biochim Biophys Acta, 2012
biochemical and molecular findings of 11 newly identified ss-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework were reported.
Transcriptional regulation of ROS controls transition from proliferation to differentiation in the root.
Impact
Benfey et al., Durham, United States. In Cell, 2010
Using high-resolution expression data from the Arabidopsis root, we identified a transcription factor, UPBEAT1 (UPB1), that regulates this balance.
Amidohydrolases of the reductive pyrimidine catabolic pathway purification, characterization, structure, reaction mechanisms and enzyme deficiency.
Review
Dobritzsch et al., Würzburg, Germany. In Biochim Biophys Acta, 2008
The amidohydrolases of this pathway are responsible for both the ring opening of dihydrouracil and dihydrothymine (dihydropyrimidine amidohydrolase) and the hydrolysis of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyrate (beta-alanine synthase).
Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism.
Review
Kuhara, Kanazawa, Japan. In J Chromatogr B Analyt Technol Biomed Life Sci, 2007
In this review, chemical diagnoses of hyperphenylalaninemia, phenylketonuria, hyperprolinemia, and lactic acidemia, and the differential diagnosis of beta-ureidopropionase deficiency and primary hyperammonemias including ornithine transcarbamylase deficiency and carbamoylphosphate synthetase deficiency are described.
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
GeneRIF
van Gennip et al., Amsterdam, Netherlands. In Nucleosides Nucleotides Nucleic Acids, 2005
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)
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
GeneRIF
van Gennip et al., Netherlands. In Hum Mol Genet, 2004
An altered homeostasis of beta-aminoisobutyric acid and/or increased oxidative stress might contribute to some of the clinical abnormalities encountered in patients with a beta-ureidopropionase deficiency.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Review
Kuhara, Kanazawa, Japan. In J Chromatogr B Analyt Technol Biomed Life Sci, 2003
The diagnosis of IEM of purine and pyrimidine such as deficiencies of hypoxanthine-guanine phosphoribosyl transferase, adenine phosphoribosyl transferase, dihydropyrimidine dehydrogenase, dihydropyrimidinase and beta-ureidopropionase are described.
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