Ask about this productRelated genes to: UPB1 antibody
- Gene:
- UPB1 NIH gene
- Name:
- beta-ureidopropionase 1
- Previous symbol:
- -
- Synonyms:
- BUP1
- Chromosome:
- 22q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2001-10-03
- Date modifiied:
- 2016-10-05
Related products to: UPB1 antibody
Related articles to: UPB1 antibody
- Anticancer therapy for patients with gastric cancer on hemodialysis is challenging owing to varying pharmacokinetics and a lack of clinical trial data. This study aimed to evaluate the efficacy and safety of the capecitabine plus oxaliplatin (CapeOX) regimen in a 73-year-old male Japanese patient with stage IV gastric cancer (human epidermal growth factor receptor 2 negative) undergoing hemodialysis. - Source: PubMed
Publication date: 2026/05/13
Nakano YukiHirai ToshinoriNishijo NaoUematsu YugoNakajima YokoOzaki TomomiShibata RyokoImada AsakoNaritomi KazuyaOgata FumihikoKawasaki NaohitoHayama TadashiYasunaga MasafumiTada KazuhiroHasuwa HirotsuguMasutani Kosuke - β-ureidopropionase (βUP) deficiency, caused by pathogenic variants in , is a rare autosomal recessive disorder with fewer than 60 reported cases to date. Clinical presentation is highly variable, ranging from asymptomatic individuals to severe neurodevelopmental disorders. Diagnosis relies on the detection of pyrimidine degradation metabolites, such as N-carbamyl-β-alanine (NCβA) and N-carbamyl-β-aminoisobutyrate (NCβAIBA), which are not widely available in routine clinical practice.We report a 7-year-old boy with early-onset developmental delay and regression, Leigh-like basal ganglia lesions on brain MRI, and persistent elevation of urinary methylmalonic acid (MMA). Muscle biopsy revealed an isolated respiratory chain complex I deficiency. Genetic testing identified two novel biallelic variants, and urinary analysis confirmed marked elevation of pyrimidine degradation metabolites, establishing the diagnosis of βUP deficiency.This case expands the clinical and neuroradiological spectrum of βUP deficiency and identifies elevated urinary MMA as a previously unreported finding in this disorder. Given the widespread availability of urinary organic acid analysis, MMA may represent a possibly useful and accessible biomarker to support diagnosis. βUP deficiency should be considered in the differential diagnosis of children with Leigh-like encephalopathy and unexplained MMA elevation. - Source: PubMed
Publication date: 2026/05/04
Ferrera GiuliaBoenzi SaraLamantea EleonoraGhezzi DanieleArdissone Anna - Hypertension (HTN) may induce liver damage; however, the effects on liver cell subpopulations remain obscure. Understanding these microenvironmental changes could offer early HTN and liver disease indicators. We employed single-cell multi-omics and histone chromatin immunoprecipitation sequencing (ChIP-seq) to scrutinize microenvironmental alterations between normal and HTN liver tissues. Our analysis revealed an HTN-related hepatocyte subpopulation, termed "Hepatocytes_1," via single-cell RNA sequencing (scRNA-seq). Five potential pathogenic genes (UPB1, SDS, PCCA, CYP3A4, and PPARGC1A) were identified in Hepatocytes_1. Additionally, the regulatory network of -regulatory elements (CREs) in genes within Hepatocytes_1 was unveiled using single-cell assay for transposase accessible chromatin (ATAC) sequencing (scATAC-seq) and histone ChIP-seq. Specifically, the active promoter of the disease-associated gene CYP3A4 formed a transcription factor (TF)-mediated regulatory network, resulting in heightened expression in HTN cells. The enhancer-mediated regulatory relationship between NR1H4 and UPB1 serves as a potential regulator in maintaining hepatic metabolic homeostasis in response to HTN-induced disturbances. The identification of HTN-related gene markers and CREs in the liver provides novel insights for HTN prevention and therapeutic targeting. - Source: PubMed
Publication date: 2025/08/23
Li HongfeiCui LingyuZhou MurongZou QuanZhao YumingLin HaoLiang YingjianChieh Kow Alfred WeiWang Guohua - Pharmacogenomic screening plays a crucial role in optimizing chemotherapy outcomes and minimizing toxicity. Characterizing the baseline distribution of genetic variants in specific populations is essential to inform the prioritization of drug-gene combinations for clinical implementation. The objective of this study was to investigate the distribution of pharmacogenetic variants in 36 genes related to the fluoropyrimidine (FP) pathway among healthy Omani individuals, forming a foundation for future studies in cancer patients receiving FP-based chemotherapy. - Source: PubMed
Publication date: 2025/05/17
Al-Mahrouqi NahadAl Shuaili NadaAl-Zadjali ShoaibPullanhi AnoopaAl-Barwani HamidaAl-Kindy AidaAl-Sharqi HadeelAl-Baimani KhalidAl-Moundhri MansourSalman Bushra - Metabolomics, in combination with genetic data, is a powerful approach to study the biochemical consequences of genetic variation. We assessed the impact of human gene knockouts (KOs) on the metabolite levels of Estonia Biobank (EstBB) participants and integrated the results with electronic health record data. In 150,000 EstBB genotyped participants, we identified 723 KOs with 152 different predicted loss of function (pLoF) variants in 115 genes. For those KOs and 258 controls, 1387 metabolites were profiled using ultra-high-performance liquid chromatography-tandem mass spectrometry. We identified 48 associations linking rare pLoF variants in 22 genes to 43 metabolites. Out of 48 associations, 27 (56%) were found in genes that cause inborn errors of metabolism. The top associations identified in our analysis included genes and metabolites involved in the degradation pathway of the pyrimidine bases uracil and thymine ( and ). We found gene KOs to be associated with elevated levels of Uracil, confirming that DPD-deficiency is a leading cause of severe 5-Fluorouracil toxicity. Overall, 54% of reported associations are gene targets of approved drugs or bioactive drug-like compounds. Our findings contribute to assessing the impact of human KOs on metabolite levels and offer insights into gene functions, disease mechanism, and drug target validation. - Source: PubMed
Publication date: 2025/05/13
Yu KetianEstonian Biobank Research Team Estrada KarolEsko TõnuKals MartNikopensius TiitKronberg JaanikaVõsa UrmoWuster ArthurBomba Lorenzo