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

Authors
Mukherji, M Kershaw, NJ MacKinnon, CH Clifton, IJ Wierzbicki, AS Schofield, CJ Lloyd, MD
Citation
M. Mukherji et al., 'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing Refsum's Disease, CHEM COMMUN, (11), 2001, pp. 972-973
Citations number
15
Categorie Soggetti
Chemistry
Journal title
CHEMICAL COMMUNICATIONS
ISSN journal
13597345 → ACNP
Issue
11
Year of publication
2001
Pages
972 - 973
Database
ISI
SICI code
1359-7345(2001):11<972:'CROP2>2.0.ZU;2-D
Abstract
The in vitro catalytic activity of two clinically observed mutants of phyta noyl-CoA 2-hydroxylase, an iron(ii)/2-oxoglutarate-dependent oxygenase caus ing Refsum's Disease, was partially rescued by the use of alternatives to t he natural cosubstrate, 2-oxoglutarate; this is the first demonstration of 'chemical co-substrate rescue' of mutations to an enzyme causing human dise ase.