'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...

詳細記述

書誌詳細
主要な著者: Mukherji, M, Kershaw, N, MacKinnon, C, Clifton, I, Wierzbicki, A, Schofield, C, Lloyd, MD
フォーマット: Journal article
言語:English
出版事項: 2001
その他の書誌記述
要約: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.