| http://purl.uniprot.org/citations/32653296 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32653296 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.dmpk.2020.05.003"xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Oyama S."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Shimizu M."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Yamazaki H."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Dionisio L."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Alda M."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Aztiria E."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Spitzmaul G."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/author | "Stupniki S."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/name | "Drug Metab Pharmacokinet"xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/pages | "383-388"xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/title | "Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation."xsd:string |
| http://purl.uniprot.org/citations/32653296 | http://purl.uniprot.org/core/volume | "35"xsd:string |
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