Literature summary for 1.13.11.5 extracted from

Tinti, L.; Spreafico, A.; Braconi, D.; Millucci, L.; Bernardini, G.; Chellini, F.; Cavallo, G.; Selvi, E.; Galeazzi, M.; Marcolongo, R.; Gallagher, J.A.; Santucci, A.
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model (2010), J. Cell. Physiol., 225, 84-91.

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
chondrocyte	-	Homo sapiens	-

General Information

General Information	Comment	Organism
malfunction	alkaptonuria 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 and its oxidized derivatives in polymerized form in connective tissues, especially in joints. Homogentisic acid induces apoptosis in chondrocytes. N-acetylcysteine decreases apoptosis induced in chondrocytes by HGA, increases chondrocyte growth reduced by homogentisate, and partially restores proteoglycan release inhibited by homogentisate, the effect is improved by addition of ascorbic acid. Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria, caused by homogentisate 1,2-dioxygenase activity mutation, in an in vitro human cell model, overview	Homo sapiens

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Release 2023.1 (January 2023)