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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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Publication details

The article was received on 30 Jan 2001, accepted on 19 Apr 2001 and first published on 10 May 2001


Article type: Communication
DOI: 10.1039/B101039P
Citation: Chem. Commun., 2001,0, 972-973
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    ‘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, 0, 972
    DOI: 10.1039/B101039P

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