FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3028280327> ?p ?o ?g. }

• W3028280327 endingPage "388" @default.
• W3028280327 startingPage "383" @default.
• W3028280327 abstract "Flavin-containing monooxygenase 3 (FMO3) is a polymorphic drug metabolizing enzyme associated with the genetic disorder trimethylaminuria. We phenotyped a white Argentinian 11-year-old girl by medical sensory evaluation. After pedigree analysis with her brother and parents, this proband showed to harbor a new allele p.(P73L; E158K; E308G) FMO3 in trans configuration with the second new one p.(F140S) FMO3. Recombinant FMO3 proteins of the wild-type and the novel two variants underwent kinetic analyses of their trimethylamine N-oxygenation activities. P73L; E158K; E308G and F140S FMO3 proteins exhibited moderately and severely decreased trimethylamine N-oxygenation capacities (~50% and ~10% of wild-type FMO3, respectively). Amino acids P73 and F140 were located on the outer surface region in a crystallographic structure recently reported of a FMO3 analog. Changes in these positions would indirectly impact on key FAD-binding residues. This is the first report and characterization of a patient of fish odor syndrome caused by genetic aberrations leading to impaired FMO3-dependent N-oxygenation of trimethylamine found in the Argentinian population. We found novel structural determinants of FAD-binding domains, expanding the list of known disease-causing mutations of FMO3. Our results suggest that individuals homozygous for any of these new variants would develop a severe form of this disorder." @default.
• W3028280327 created "2020-05-29" @default.
• W3028280327 creator A5008871785 @default.
• W3028280327 creator A5008956786 @default.
• W3028280327 creator A5027929043 @default.
• W3028280327 creator A5032107361 @default.
• W3028280327 creator A5035374146 @default.
• W3028280327 creator A5047796616 @default.
• W3028280327 creator A5063924812 @default.
• W3028280327 creator A5078922881 @default.
• W3028280327 date "2020-08-01" @default.
• W3028280327 modified "2023-10-09" @default.
• W3028280327 title "Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation" @default.
• W3028280327 cites W1532691193 @default.
• W3028280327 cites W1984588031 @default.
• W3028280327 cites W1993445042 @default.
• W3028280327 cites W2013833048 @default.
• W3028280327 cites W2018159164 @default.
• W3028280327 cites W2020697761 @default.
• W3028280327 cites W2022245507 @default.
• W3028280327 cites W2027224416 @default.
• W3028280327 cites W2033956439 @default.
• W3028280327 cites W2045778238 @default.
• W3028280327 cites W2048745888 @default.
• W3028280327 cites W2053397253 @default.
• W3028280327 cites W2058735127 @default.
• W3028280327 cites W2067351458 @default.
• W3028280327 cites W2068390361 @default.
• W3028280327 cites W2071009068 @default.
• W3028280327 cites W2080852909 @default.
• W3028280327 cites W2086242063 @default.
• W3028280327 cites W2087820100 @default.
• W3028280327 cites W2119091940 @default.
• W3028280327 cites W2131872359 @default.
• W3028280327 cites W2145798500 @default.
• W3028280327 cites W2151877060 @default.
• W3028280327 cites W2155201524 @default.
• W3028280327 cites W2169957245 @default.
• W3028280327 cites W2171989101 @default.
• W3028280327 cites W2264758140 @default.
• W3028280327 cites W2288246450 @default.
• W3028280327 cites W2734956670 @default.
• W3028280327 cites W2761458133 @default.
• W3028280327 cites W2954695107 @default.
• W3028280327 cites W2963028651 @default.
• W3028280327 cites W2995940204 @default.
• W3028280327 doi "https://doi.org/10.1016/j.dmpk.2020.05.003" @default.
• W3028280327 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32653296" @default.
• W3028280327 hasPublicationYear "2020" @default.
• W3028280327 type Work @default.
• W3028280327 sameAs 3028280327 @default.
• W3028280327 citedByCount "2" @default.
• W3028280327 countsByYear W30282803272021 @default.
• W3028280327 countsByYear W30282803272023 @default.
• W3028280327 crossrefType "journal-article" @default.
• W3028280327 hasAuthorship W3028280327A5008871785 @default.
• W3028280327 hasAuthorship W3028280327A5008956786 @default.
• W3028280327 hasAuthorship W3028280327A5027929043 @default.
• W3028280327 hasAuthorship W3028280327A5032107361 @default.
• W3028280327 hasAuthorship W3028280327A5035374146 @default.
• W3028280327 hasAuthorship W3028280327A5047796616 @default.
• W3028280327 hasAuthorship W3028280327A5063924812 @default.
• W3028280327 hasAuthorship W3028280327A5078922881 @default.
• W3028280327 hasBestOaLocation W30282803272 @default.
• W3028280327 hasConcept C104317684 @default.
• W3028280327 hasConcept C12125453 @default.
• W3028280327 hasConcept C13002179 @default.
• W3028280327 hasConcept C180754005 @default.
• W3028280327 hasConcept C181199279 @default.
• W3028280327 hasConcept C185592680 @default.
• W3028280327 hasConcept C188997412 @default.
• W3028280327 hasConcept C18903297 @default.
• W3028280327 hasConcept C2776146729 @default.
• W3028280327 hasConcept C2776149385 @default.
• W3028280327 hasConcept C2908647359 @default.
• W3028280327 hasConcept C33093398 @default.
• W3028280327 hasConcept C501734568 @default.
• W3028280327 hasConcept C526171541 @default.
• W3028280327 hasConcept C54355233 @default.
• W3028280327 hasConcept C55493867 @default.
• W3028280327 hasConcept C70289976 @default.
• W3028280327 hasConcept C71240020 @default.
• W3028280327 hasConcept C71924100 @default.
• W3028280327 hasConcept C71995715 @default.
• W3028280327 hasConcept C86803240 @default.
• W3028280327 hasConcept C99454951 @default.
• W3028280327 hasConceptScore W3028280327C104317684 @default.
• W3028280327 hasConceptScore W3028280327C12125453 @default.
• W3028280327 hasConceptScore W3028280327C13002179 @default.
• W3028280327 hasConceptScore W3028280327C180754005 @default.
• W3028280327 hasConceptScore W3028280327C181199279 @default.
• W3028280327 hasConceptScore W3028280327C185592680 @default.
• W3028280327 hasConceptScore W3028280327C188997412 @default.
• W3028280327 hasConceptScore W3028280327C18903297 @default.
• W3028280327 hasConceptScore W3028280327C2776146729 @default.
• W3028280327 hasConceptScore W3028280327C2776149385 @default.
• W3028280327 hasConceptScore W3028280327C2908647359 @default.
• W3028280327 hasConceptScore W3028280327C33093398 @default.

• next