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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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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General Article
Online Zugang: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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