Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000932398> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2000932398 endingPage "31" @default.
- W2000932398 startingPage "27" @default.
- W2000932398 abstract "The involvement of the enzyme, phenylalanine hydroxylase (PAH), in the S-oxidation of S-carboxymethyl-l-cysteine (SCMC) is now firmly established in man and rat. However, the underlying role of the molecular genetics of PAH in dictating and influencing the S-oxidation polymorphism of SCMC metabolism is as yet unknown. In this work we report that the S-oxidation of SCMC was dramatically reduced in the tetrahydrobiopterin (BH4) responsive mutant PAH proteins (I65T, R68S, R261Q, V388M and Y414C) with these enzymes possessing between 1.2% and 2.0% of the wild type PAH activity when SCMC was used as substrate. These same mutant proteins express between 23% and 76% of the wild type PAH activity when phenylalanine was used as the substrate. The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical phenylketonuria (PKU) phenotype expressing 0.2–1.8% of the wild type PAH activity when using phenylalanine as substrate were found to have <0.1% of the wild type PAH activity when SCMC was used as the substrate. Mutations that result in PAH proteins retaining some residual PAH activity with phenylalanine as substrate have <2.0% residual activity when SCMC was used as a substrate. This investigation has led to the hypothesis that the S-oxidation polymorphism in man is a consequence of an individual carrying one mutant PAH allele which has resulted in the loss of the ability of the residual PAH protein to undertake the S-oxidation of SCMC in vivo." @default.
- W2000932398 created "2016-06-24" @default.
- W2000932398 creator A5001516751 @default.
- W2000932398 creator A5001813953 @default.
- W2000932398 creator A5040246496 @default.
- W2000932398 creator A5073454124 @default.
- W2000932398 creator A5081826044 @default.
- W2000932398 date "2009-01-01" @default.
- W2000932398 modified "2023-10-14" @default.
- W2000932398 title "The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine" @default.
- W2000932398 cites W1816125786 @default.
- W2000932398 cites W1967590977 @default.
- W2000932398 cites W1970245266 @default.
- W2000932398 cites W1987227757 @default.
- W2000932398 cites W1992460598 @default.
- W2000932398 cites W1993207768 @default.
- W2000932398 cites W1993545629 @default.
- W2000932398 cites W2019275488 @default.
- W2000932398 cites W2024293713 @default.
- W2000932398 cites W2032982536 @default.
- W2000932398 cites W2046750943 @default.
- W2000932398 cites W2063756503 @default.
- W2000932398 cites W2080176130 @default.
- W2000932398 cites W2086172007 @default.
- W2000932398 cites W2106019968 @default.
- W2000932398 cites W2123318462 @default.
- W2000932398 cites W2130060410 @default.
- W2000932398 cites W2131858055 @default.
- W2000932398 cites W2147507284 @default.
- W2000932398 cites W2154129309 @default.
- W2000932398 cites W2160583678 @default.
- W2000932398 doi "https://doi.org/10.1016/j.ymgme.2008.10.011" @default.
- W2000932398 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19036622" @default.
- W2000932398 hasPublicationYear "2009" @default.
- W2000932398 type Work @default.
- W2000932398 sameAs 2000932398 @default.
- W2000932398 citedByCount "15" @default.
- W2000932398 countsByYear W20009323982012 @default.
- W2000932398 countsByYear W20009323982015 @default.
- W2000932398 countsByYear W20009323982018 @default.
- W2000932398 countsByYear W20009323982019 @default.
- W2000932398 countsByYear W20009323982022 @default.
- W2000932398 crossrefType "journal-article" @default.
- W2000932398 hasAuthorship W2000932398A5001516751 @default.
- W2000932398 hasAuthorship W2000932398A5001813953 @default.
- W2000932398 hasAuthorship W2000932398A5040246496 @default.
- W2000932398 hasAuthorship W2000932398A5073454124 @default.
- W2000932398 hasAuthorship W2000932398A5081826044 @default.
- W2000932398 hasConcept C104317684 @default.
- W2000932398 hasConcept C143065580 @default.
- W2000932398 hasConcept C181199279 @default.
- W2000932398 hasConcept C185592680 @default.
- W2000932398 hasConcept C18903297 @default.
- W2000932398 hasConcept C197957613 @default.
- W2000932398 hasConcept C207009774 @default.
- W2000932398 hasConcept C207583985 @default.
- W2000932398 hasConcept C2776145790 @default.
- W2000932398 hasConcept C2777289219 @default.
- W2000932398 hasConcept C2777431362 @default.
- W2000932398 hasConcept C2779201268 @default.
- W2000932398 hasConcept C515207424 @default.
- W2000932398 hasConcept C55493867 @default.
- W2000932398 hasConcept C86803240 @default.
- W2000932398 hasConceptScore W2000932398C104317684 @default.
- W2000932398 hasConceptScore W2000932398C143065580 @default.
- W2000932398 hasConceptScore W2000932398C181199279 @default.
- W2000932398 hasConceptScore W2000932398C185592680 @default.
- W2000932398 hasConceptScore W2000932398C18903297 @default.
- W2000932398 hasConceptScore W2000932398C197957613 @default.
- W2000932398 hasConceptScore W2000932398C207009774 @default.
- W2000932398 hasConceptScore W2000932398C207583985 @default.
- W2000932398 hasConceptScore W2000932398C2776145790 @default.
- W2000932398 hasConceptScore W2000932398C2777289219 @default.
- W2000932398 hasConceptScore W2000932398C2777431362 @default.
- W2000932398 hasConceptScore W2000932398C2779201268 @default.
- W2000932398 hasConceptScore W2000932398C515207424 @default.
- W2000932398 hasConceptScore W2000932398C55493867 @default.
- W2000932398 hasConceptScore W2000932398C86803240 @default.
- W2000932398 hasIssue "1" @default.
- W2000932398 hasLocation W20009323981 @default.
- W2000932398 hasLocation W20009323982 @default.
- W2000932398 hasOpenAccess W2000932398 @default.
- W2000932398 hasPrimaryLocation W20009323981 @default.
- W2000932398 hasRelatedWork W1491056713 @default.
- W2000932398 hasRelatedWork W2040635575 @default.
- W2000932398 hasRelatedWork W2052892613 @default.
- W2000932398 hasRelatedWork W2053583806 @default.
- W2000932398 hasRelatedWork W2057728024 @default.
- W2000932398 hasRelatedWork W2059353739 @default.
- W2000932398 hasRelatedWork W2073761890 @default.
- W2000932398 hasRelatedWork W2147507284 @default.
- W2000932398 hasRelatedWork W75288963 @default.
- W2000932398 hasRelatedWork W214510971 @default.
- W2000932398 hasVolume "96" @default.
- W2000932398 isParatext "false" @default.
- W2000932398 isRetracted "false" @default.
- W2000932398 magId "2000932398" @default.
- W2000932398 workType "article" @default.