FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149117172> ?p ?o ?g. }

• W2149117172 endingPage "2801" @default.
• W2149117172 startingPage "2793" @default.
• W2149117172 abstract "beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. No beta-ureidopropionase activity could be detected in a liver biopsy obtained from one of the patients, which reflected the complete absence of the beta-ureidopropionase protein. Analysis of the beta-ureidopropionase gene (UPB1) of these patients revealed the presence of two splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). Heterologous expression of the mutant enzyme in Escherichia coli showed that the A85E mutation resulted in a mutant beta-ureidopropionase enzyme without residual activity. Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene. Furthermore, 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. An analysis of the presence of the two splice site mutations and the missense mutation in 95 controls identified one individual who proved to be heterozygous for the IVS8-1G>A mutation. Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered." @default.
• W2149117172 created "2016-06-24" @default.
• W2149117172 creator A5001718474 @default.
• W2149117172 creator A5009020389 @default.
• W2149117172 creator A5015947434 @default.
• W2149117172 creator A5022719012 @default.
• W2149117172 creator A5023668774 @default.
• W2149117172 creator A5029976932 @default.
• W2149117172 creator A5030784484 @default.
• W2149117172 creator A5036366864 @default.
• W2149117172 creator A5036714375 @default.
• W2149117172 creator A5045187784 @default.
• W2149117172 creator A5058069594 @default.
• W2149117172 creator A5062310823 @default.
• W2149117172 creator A5063665272 @default.
• W2149117172 creator A5072840045 @default.
• W2149117172 creator A5078416616 @default.
• W2149117172 creator A5080846462 @default.
• W2149117172 creator A5082493161 @default.
• W2149117172 creator A5088600943 @default.
• W2149117172 creator A5090027115 @default.
• W2149117172 date "2004-09-22" @default.
• W2149117172 modified "2023-09-25" @default.
• W2149117172 title "β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities" @default.
• W2149117172 cites W1543469921 @default.
• W2149117172 cites W1591591020 @default.
• W2149117172 cites W1595259208 @default.
• W2149117172 cites W1972823987 @default.
• W2149117172 cites W1981253503 @default.
• W2149117172 cites W1983711788 @default.
• W2149117172 cites W1985855325 @default.
• W2149117172 cites W1987919444 @default.
• W2149117172 cites W1989930533 @default.
• W2149117172 cites W1997540628 @default.
• W2149117172 cites W2019124994 @default.
• W2149117172 cites W2033443139 @default.
• W2149117172 cites W2074159416 @default.
• W2149117172 cites W2101355612 @default.
• W2149117172 cites W2107270966 @default.
• W2149117172 cites W2115027526 @default.
• W2149117172 cites W2115435364 @default.
• W2149117172 cites W2137716360 @default.
• W2149117172 cites W2141878889 @default.
• W2149117172 cites W2154867796 @default.
• W2149117172 cites W2157345852 @default.
• W2149117172 cites W2162637812 @default.
• W2149117172 cites W2165229042 @default.
• W2149117172 cites W2407969353 @default.
• W2149117172 cites W377596542 @default.
• W2149117172 cites W41774990 @default.
• W2149117172 cites W4232534952 @default.
• W2149117172 cites W53223392 @default.
• W2149117172 doi "https://doi.org/10.1093/hmg/ddh303" @default.
• W2149117172 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15385443" @default.
• W2149117172 hasPublicationYear "2004" @default.
• W2149117172 type Work @default.
• W2149117172 sameAs 2149117172 @default.
• W2149117172 citedByCount "71" @default.
• W2149117172 countsByYear W21491171722012 @default.
• W2149117172 countsByYear W21491171722013 @default.
• W2149117172 countsByYear W21491171722014 @default.
• W2149117172 countsByYear W21491171722015 @default.
• W2149117172 countsByYear W21491171722016 @default.
• W2149117172 countsByYear W21491171722017 @default.
• W2149117172 countsByYear W21491171722018 @default.
• W2149117172 countsByYear W21491171722019 @default.
• W2149117172 countsByYear W21491171722020 @default.
• W2149117172 countsByYear W21491171722021 @default.
• W2149117172 countsByYear W21491171722022 @default.
• W2149117172 countsByYear W21491171722023 @default.
• W2149117172 crossrefType "journal-article" @default.
• W2149117172 hasAuthorship W2149117172A5001718474 @default.
• W2149117172 hasAuthorship W2149117172A5009020389 @default.
• W2149117172 hasAuthorship W2149117172A5015947434 @default.
• W2149117172 hasAuthorship W2149117172A5022719012 @default.
• W2149117172 hasAuthorship W2149117172A5023668774 @default.
• W2149117172 hasAuthorship W2149117172A5029976932 @default.
• W2149117172 hasAuthorship W2149117172A5030784484 @default.
• W2149117172 hasAuthorship W2149117172A5036366864 @default.
• W2149117172 hasAuthorship W2149117172A5036714375 @default.
• W2149117172 hasAuthorship W2149117172A5045187784 @default.
• W2149117172 hasAuthorship W2149117172A5058069594 @default.
• W2149117172 hasAuthorship W2149117172A5062310823 @default.
• W2149117172 hasAuthorship W2149117172A5063665272 @default.
• W2149117172 hasAuthorship W2149117172A5072840045 @default.
• W2149117172 hasAuthorship W2149117172A5078416616 @default.
• W2149117172 hasAuthorship W2149117172A5080846462 @default.
• W2149117172 hasAuthorship W2149117172A5082493161 @default.
• W2149117172 hasAuthorship W2149117172A5088600943 @default.
• W2149117172 hasAuthorship W2149117172A5090027115 @default.
• W2149117172 hasConcept C104317684 @default.
• W2149117172 hasConcept C12125453 @default.
• W2149117172 hasConcept C126322002 @default.
• W2149117172 hasConcept C134018914 @default.
• W2149117172 hasConcept C143065580 @default.
• W2149117172 hasConcept C153911025 @default.
• W2149117172 hasConcept C2779646400 @default.
• W2149117172 hasConcept C2994225774 @default.

• next