Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2001 1
2004 1
2005 1
2006 4
2007 2
2008 2
2010 1
2012 3
2013 1
2014 3
2015 2
2016 2
2018 1
2019 1
2020 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
Page 1
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322
BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. ...SYNOPSIS: The relationship between beta- …
BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various …
Clinical and genetic analysis of 7 Chinese patients with beta-ureidopropionase deficiency.
Fang Y, Cai C, Wang C, Sun B, Zhang X, Fan W, Hu W, Meng Y, Lin S, Zhang C, Zhang Y, Shu J. Fang Y, et al. Medicine (Baltimore). 2019 Jan;98(1):e14021. doi: 10.1097/MD.0000000000014021. Medicine (Baltimore). 2019. PMID: 30608453 Free PMC article.
beta-Ureidopropionase (betaUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of beta-ureidopropionase gene (UPB1) gene and clinical fea
beta-Ureidopropionase (betaUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degra
beta-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1. Mol Genet Metab. 2022. PMID: 35151535 Free article.
To date, only a limited number of genetically confirmed patients with a complete beta-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 10 newly identified beta-ureidopropionase defic …
To date, only a limited number of genetically confirmed patients with a complete beta-ureidopropionase deficiency have been re …
Dihydropyrimidinase and beta-ureidopropionase gene variation and severe fluoropyrimidine-related toxicity.
Kummer D, Froehlich TK, Joerger M, Aebi S, Sistonen J, Amstutz U, Largiadèr CR. Kummer D, et al. Pharmacogenomics. 2015;16(12):1367-77. doi: 10.2217/pgs.15.81. Epub 2015 Aug 5. Pharmacogenomics. 2015. PMID: 26244261
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. ...
AIMS: To assess the association of DPYS and UPB1 genetic variation, encoding the catabolic enzymes downstream of dihydropyrimidine de …
Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism.
Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB. Thomas HR, et al. Pharmacogenet Genomics. 2008 Jan;18(1):25-35. doi: 10.1097/FPC.0b013e3282f2f134. Pharmacogenet Genomics. 2008. PMID: 18216719
There remains, however, a subset of patients presenting with 5-FU-associated toxicity despite normal DPD activity, suggesting possible deficiencies in enzymes downstream of DPD: dihydropyrimidinase (DHP), encoded by the DPYS gene, and/or beta-ureidopropionase (BUP-1 …
There remains, however, a subset of patients presenting with 5-FU-associated toxicity despite normal DPD activity, suggesting possible defic …
Crystal structure and pH-dependent allosteric regulation of human beta-ureidopropionase, an enzyme involved in anticancer drug metabolism.
Maurer D, Lohkamp B, Krumpel M, Widersten M, Dobritzsch D. Maurer D, et al. Biochem J. 2018 Jul 31;475(14):2395-2416. doi: 10.1042/BCJ20180222. Biochem J. 2018. PMID: 29976570
beta-Ureidopropionase (betaUP) catalyzes the third step of the reductive pyrimidine catabolic pathway responsible for breakdown of uracil-, thymine- and pyrimidine-based antimetabolites such as 5-fluorouracil. ...
beta-Ureidopropionase (betaUP) catalyzes the third step of the reductive pyrimidine catabolic pathway responsible for breakdow
Contribution of the beta-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.
Fidlerova J, Kleiblova P, Kormunda S, Novotny J, Kleibl Z. Fidlerova J, et al. Pharmacol Rep. 2012;64(5):1234-42. doi: 10.1016/s1734-1140(12)70919-2. Pharmacol Rep. 2012. PMID: 23238479 Free article.
BACKGROUND: An impairment of the 5-fluorouracil (5-FU) catabolic pathway, represented by alterations in the dihydropyrimidine dehydrogenase (DPYD) gene, is considered a crucial factor contributing to the development of 5-FU-related toxicity. The beta-ureidopropionase
BACKGROUND: An impairment of the 5-fluorouracil (5-FU) catabolic pathway, represented by alterations in the dihydropyrimidine dehydrogenase …
Expression and properties of human liver beta-ureidopropionase.
Sakamoto T, Sakata SF, Matsuda K, Horikawa Y, Tamaki N. Sakamoto T, et al. J Nutr Sci Vitaminol (Tokyo). 2001 Apr;47(2):132-8. doi: 10.3177/jnsv.47.132. J Nutr Sci Vitaminol (Tokyo). 2001. PMID: 11508704
A cDNA encoding beta-ureidopropionase (BUP) was isolated from a human liver cDNA library, expressed in E. coli, and purified from the culture extract. ...
A cDNA encoding beta-ureidopropionase (BUP) was isolated from a human liver cDNA library, expressed in E. coli, and purified f …
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10.1080/15257770600956870. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065070
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). ...The alanine at positi …
Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, …
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC. van Kuilenburg AB, et al. Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14. Biochim Biophys Acta. 2012. PMID: 22525402 Free article.
Patients presented mainly with neurological abnormalities (intellectual disabilities, seizures, abnormal tonus regulation, microcephaly, and malformations on neuro-imaging) and markedly elevated levels of N-carbamyl-ss-alanine and N-carbamyl-ss-aminoisobutyric acid in urine and p …
Patients presented mainly with neurological abnormalities (intellectual disabilities, seizures, abnormal tonus regulation, microcephaly, and …
27 results