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Issue 11, 2001
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‘Chemical co-substrate rescue’ of phytanoyl-CoA 2-hydroxylase mutants causing Refsum’s Disease

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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.

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Article information


Submitted
30 Jan 2001
Accepted
19 Apr 2001
First published
10 May 2001

Chem. Commun., 2001, 972-973
Article type
Communication

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

M. Mukherji, N. J. Kershaw, C. H. MacKinnon, I. J. Clifton, A. S. Wierzbicki, C. J. Schofield and M. D. Lloyd, Chem. Commun., 2001, 972
DOI: 10.1039/B101039P

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