‘Chemical co-substrate rescue’ of phytanoyl-CoA 2-hydroxylase mutants causing Refsum’s Disease
- 10 May 2001
- journal article
- research article
- Published by Royal Society of Chemistry (RSC) in Chemical Communications
- No. 11,p. 972-973
- https://doi.org/10.1039/b101039p
Abstract
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.Keywords
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