Journal article

'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing refsum's disease

M Mukherji, NJ Kershaw, CH MacKinnon, IJ Clifton, AS Wierzbicki, CJ Schofield, MD Lloyd

Chemical Communications | Published : 2001


The in vitro catalytic activity of two clinically observed mutants of phytanoyl-CoA 2-hydroxylase, an iron(II)/2-oxoglutarate-dependent oxygenase causing Refsum's Disease, was partially rescued by the use of alternatives to the natural cosubstrate, 2-oxoglutarate; this is the first demonstration of 'chemical co-substrate rescue' of mutations to an enzyme causing human disease.

University of Melbourne Researchers

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