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Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis

✍ Scribed by Daniela Braconi; Claretta Bianchini; Giulia Bernardini; Marcella Laschi; Lia Millucci; Adriano Spreafico; Annalisa Santucci

Publisher
Springer
Year
2011
Tongue
English
Weight
444 KB
Volume
34
Category
Article
ISSN
0141-8955

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## Abstract Alkaptonuria (AKU) is a rare autosomal recessive disease, associated with deficiency of homogentisate 1,2‐dioxygenase activity in the liver. This leads to an accumulation of homogentisic acid (HGA) and its oxidized derivatives in polymerized form in connective tissues especially in join