'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing Refsum's Disease

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 demonstratio...

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Príomhchruthaitheoirí: Mukherji, M, Kershaw, N, MacKinnon, C, Clifton, I, Wierzbicki, A, Schofield, C, Lloyd, MD
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: 2001
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Achoimre: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.