Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria

Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency. Circulating homogentisic acid (HGA) is elevated and deposits in connective tissues as ochronotic pigment. In this study, we aimed to define developmental and adult HGD tissue expression and determine the l...

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Опубликовано в: :Hum Mol Genet
Главные авторы: Hughes, Juliette H, Liu, Ke, Plagge, Antonius, Wilson, Peter J M, Sutherland, Hazel, Norman, Brendan P, Hughes, Andrew T, Keenan, Craig M, Milan, Anna M, Sakai, Takao, Ranganath, Lakshminarayan R, Gallagher, James A, Bou-Gharios, George
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2019
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General Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073386/
https://ncbi.nlm.nih.gov/pubmed/31600782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz234
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