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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Udgivet i:Hum Mol Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2019
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General Article
Online adgang: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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