Matches in SemOpenAlex for { <https://semopenalex.org/work/W2130052223> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2130052223 endingPage "50" @default.
- W2130052223 startingPage "45" @default.
- W2130052223 abstract "Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequently undergoes polymerisation, principally in the cartilages of loaded joints, in a process known as ochronosis. This results in an early-onset, devastating osteoarthropathy for which there is currently no effective treatment. We recently described the natural history of ochronosis in a murine model of AKU, demonstrating that deposition of ochronotic pigment begins very early in life and accumulates with age. Using this model, we were able to show that lifetime treatment with nitisinone, a potential therapy for AKU, was able to completely prevent deposition of ochronotic pigment. However, although nitisinone has been shown to inhibit ochronotic deposition, whether it can also facilitate removal of existing pigment has not yet been examined. We describe here that midlife administration of nitisinone to AKU mice arrests further deposition of ochronotic pigment in the tibiofemoral joint, but does not result in the clearance of existing pigment. We also demonstrate the dose-dependent response of plasma HGA to nitisinone, highlighting its efficacy for personalised medicine, where dosage can be tailored to the individual AKU patient." @default.
- W2130052223 created "2016-06-24" @default.
- W2130052223 creator A5009757221 @default.
- W2130052223 creator A5031826164 @default.
- W2130052223 creator A5038647485 @default.
- W2130052223 creator A5051131737 @default.
- W2130052223 creator A5072763553 @default.
- W2130052223 creator A5073877485 @default.
- W2130052223 creator A5083073268 @default.
- W2130052223 creator A5084872983 @default.
- W2130052223 creator A5089535220 @default.
- W2130052223 date "2015-01-01" @default.
- W2130052223 modified "2023-09-27" @default.
- W2130052223 title "Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice" @default.
- W2130052223 cites W1563615273 @default.
- W2130052223 cites W1977056090 @default.
- W2130052223 cites W2011526303 @default.
- W2130052223 cites W2012797544 @default.
- W2130052223 cites W2035762801 @default.
- W2130052223 cites W2048228403 @default.
- W2130052223 cites W2058435889 @default.
- W2130052223 cites W2133768386 @default.
- W2130052223 cites W2137332946 @default.
- W2130052223 cites W2149097296 @default.
- W2130052223 cites W2154418484 @default.
- W2130052223 cites W2906790474 @default.
- W2130052223 cites W4232024554 @default.
- W2130052223 doi "https://doi.org/10.1007/8904_2015_437" @default.
- W2130052223 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4582025" @default.
- W2130052223 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25940034" @default.
- W2130052223 hasPublicationYear "2015" @default.
- W2130052223 type Work @default.
- W2130052223 sameAs 2130052223 @default.
- W2130052223 citedByCount "39" @default.
- W2130052223 countsByYear W21300522232015 @default.
- W2130052223 countsByYear W21300522232016 @default.
- W2130052223 countsByYear W21300522232017 @default.
- W2130052223 countsByYear W21300522232018 @default.
- W2130052223 countsByYear W21300522232019 @default.
- W2130052223 countsByYear W21300522232020 @default.
- W2130052223 countsByYear W21300522232021 @default.
- W2130052223 countsByYear W21300522232022 @default.
- W2130052223 countsByYear W21300522232023 @default.
- W2130052223 crossrefType "book-chapter" @default.
- W2130052223 hasAuthorship W2130052223A5009757221 @default.
- W2130052223 hasAuthorship W2130052223A5031826164 @default.
- W2130052223 hasAuthorship W2130052223A5038647485 @default.
- W2130052223 hasAuthorship W2130052223A5051131737 @default.
- W2130052223 hasAuthorship W2130052223A5072763553 @default.
- W2130052223 hasAuthorship W2130052223A5073877485 @default.
- W2130052223 hasAuthorship W2130052223A5083073268 @default.
- W2130052223 hasAuthorship W2130052223A5084872983 @default.
- W2130052223 hasAuthorship W2130052223A5089535220 @default.
- W2130052223 hasBestOaLocation W21300522232 @default.
- W2130052223 hasConcept C142724271 @default.
- W2130052223 hasConcept C185592680 @default.
- W2130052223 hasConcept C2776255415 @default.
- W2130052223 hasConcept C2776743390 @default.
- W2130052223 hasConcept C2777169657 @default.
- W2130052223 hasConcept C55493867 @default.
- W2130052223 hasConcept C71924100 @default.
- W2130052223 hasConceptScore W2130052223C142724271 @default.
- W2130052223 hasConceptScore W2130052223C185592680 @default.
- W2130052223 hasConceptScore W2130052223C2776255415 @default.
- W2130052223 hasConceptScore W2130052223C2776743390 @default.
- W2130052223 hasConceptScore W2130052223C2777169657 @default.
- W2130052223 hasConceptScore W2130052223C55493867 @default.
- W2130052223 hasConceptScore W2130052223C71924100 @default.
- W2130052223 hasLocation W21300522231 @default.
- W2130052223 hasLocation W21300522232 @default.
- W2130052223 hasLocation W21300522233 @default.
- W2130052223 hasLocation W21300522234 @default.
- W2130052223 hasLocation W21300522235 @default.
- W2130052223 hasOpenAccess W2130052223 @default.
- W2130052223 hasPrimaryLocation W21300522231 @default.
- W2130052223 hasRelatedWork W2034705268 @default.
- W2130052223 hasRelatedWork W2118509080 @default.
- W2130052223 hasRelatedWork W2133768386 @default.
- W2130052223 hasRelatedWork W2398336517 @default.
- W2130052223 hasRelatedWork W2619751108 @default.
- W2130052223 hasRelatedWork W2959149350 @default.
- W2130052223 hasRelatedWork W4236775904 @default.
- W2130052223 hasRelatedWork W4289535781 @default.
- W2130052223 hasRelatedWork W4292289241 @default.
- W2130052223 hasRelatedWork W9014468 @default.
- W2130052223 isParatext "false" @default.
- W2130052223 isRetracted "false" @default.
- W2130052223 magId "2130052223" @default.
- W2130052223 workType "book-chapter" @default.