Matches in SemOpenAlex for { <https://semopenalex.org/work/W2031722015> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2031722015 endingPage "3035" @default.
- W2031722015 startingPage "3031" @default.
- W2031722015 abstract "Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.4.2.10; orotidine-5′-phosphate:pyrophosphate phosphoribosyltransferase) and orotidine-5′-phosphate decarboxylase (EC 4.1.1.23; orotidine-5′-phosphate carboxy-lyase). We have compared certain physicochemical properties of orotidine-5′-phosphate decarboxylase from normal and mutant fibroblasts grown under identical conditions. Orotidine-5′-phosphate decarboxylase from homozygous mutant cells was more thermolabile and exhibited a different electrophoretic mobility when compared to the enzyme from normal cells; orotidine-5′-phosphate decarboxylase from one heterozygous cell strain exhibited an intermediate thermolability while the other heterozygote displayed a thermal inactivation curve indistinguishable from normal. The enzyme from both normal and mutant cells exhibited biphasic kinetics with the same apparent Michaelis constants. These data suggest that the molecular defect in the enzyme of this patient with orotic aciduria is due to a mutation in a gene that affects the structure of either orotate phosphoribosyltransferase or orotidine-5′-phosphate decarboxylase and cannot be attributed to a mutation in a regulatory gene, as previously suggested." @default.
- W2031722015 created "2016-06-24" @default.
- W2031722015 creator A5010543858 @default.
- W2031722015 creator A5066028209 @default.
- W2031722015 creator A5087378867 @default.
- W2031722015 date "1974-08-01" @default.
- W2031722015 modified "2023-09-26" @default.
- W2031722015 title "Hereditary Orotic Aciduria: Evidence for a Structural Gene Mutation" @default.
- W2031722015 cites W1515500403 @default.
- W2031722015 cites W1574398459 @default.
- W2031722015 cites W1656313990 @default.
- W2031722015 cites W1775749144 @default.
- W2031722015 cites W180758481 @default.
- W2031722015 cites W1808527256 @default.
- W2031722015 cites W1949383785 @default.
- W2031722015 cites W1974654984 @default.
- W2031722015 cites W1977041815 @default.
- W2031722015 cites W1989054182 @default.
- W2031722015 cites W1989480116 @default.
- W2031722015 cites W2004020018 @default.
- W2031722015 cites W2005172115 @default.
- W2031722015 cites W2020828090 @default.
- W2031722015 cites W2028530638 @default.
- W2031722015 cites W2032619610 @default.
- W2031722015 cites W2038345597 @default.
- W2031722015 cites W2064458968 @default.
- W2031722015 cites W2073481159 @default.
- W2031722015 cites W2076315909 @default.
- W2031722015 cites W2092752946 @default.
- W2031722015 doi "https://doi.org/10.1073/pnas.71.8.3031" @default.
- W2031722015 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/388614" @default.
- W2031722015 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/4528586" @default.
- W2031722015 hasPublicationYear "1974" @default.
- W2031722015 type Work @default.
- W2031722015 sameAs 2031722015 @default.
- W2031722015 citedByCount "28" @default.
- W2031722015 crossrefType "journal-article" @default.
- W2031722015 hasAuthorship W2031722015A5010543858 @default.
- W2031722015 hasAuthorship W2031722015A5066028209 @default.
- W2031722015 hasAuthorship W2031722015A5087378867 @default.
- W2031722015 hasBestOaLocation W20317220151 @default.
- W2031722015 hasConcept C104317684 @default.
- W2031722015 hasConcept C143065580 @default.
- W2031722015 hasConcept C153911025 @default.
- W2031722015 hasConcept C181199279 @default.
- W2031722015 hasConcept C185592680 @default.
- W2031722015 hasConcept C2776476023 @default.
- W2031722015 hasConcept C2777991568 @default.
- W2031722015 hasConcept C2779155592 @default.
- W2031722015 hasConcept C40507961 @default.
- W2031722015 hasConcept C501734568 @default.
- W2031722015 hasConcept C55493867 @default.
- W2031722015 hasConcept C78179603 @default.
- W2031722015 hasConcept C86803240 @default.
- W2031722015 hasConceptScore W2031722015C104317684 @default.
- W2031722015 hasConceptScore W2031722015C143065580 @default.
- W2031722015 hasConceptScore W2031722015C153911025 @default.
- W2031722015 hasConceptScore W2031722015C181199279 @default.
- W2031722015 hasConceptScore W2031722015C185592680 @default.
- W2031722015 hasConceptScore W2031722015C2776476023 @default.
- W2031722015 hasConceptScore W2031722015C2777991568 @default.
- W2031722015 hasConceptScore W2031722015C2779155592 @default.
- W2031722015 hasConceptScore W2031722015C40507961 @default.
- W2031722015 hasConceptScore W2031722015C501734568 @default.
- W2031722015 hasConceptScore W2031722015C55493867 @default.
- W2031722015 hasConceptScore W2031722015C78179603 @default.
- W2031722015 hasConceptScore W2031722015C86803240 @default.
- W2031722015 hasIssue "8" @default.
- W2031722015 hasLocation W20317220151 @default.
- W2031722015 hasLocation W20317220152 @default.
- W2031722015 hasLocation W20317220153 @default.
- W2031722015 hasLocation W20317220154 @default.
- W2031722015 hasOpenAccess W2031722015 @default.
- W2031722015 hasPrimaryLocation W20317220151 @default.
- W2031722015 hasRelatedWork W1550983566 @default.
- W2031722015 hasRelatedWork W1897859244 @default.
- W2031722015 hasRelatedWork W1973208104 @default.
- W2031722015 hasRelatedWork W1985301420 @default.
- W2031722015 hasRelatedWork W1986920602 @default.
- W2031722015 hasRelatedWork W2008330202 @default.
- W2031722015 hasRelatedWork W2042035007 @default.
- W2031722015 hasRelatedWork W2042563234 @default.
- W2031722015 hasRelatedWork W2144665840 @default.
- W2031722015 hasRelatedWork W2147466517 @default.
- W2031722015 hasVolume "71" @default.
- W2031722015 isParatext "false" @default.
- W2031722015 isRetracted "false" @default.
- W2031722015 magId "2031722015" @default.
- W2031722015 workType "article" @default.