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Journal article

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

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.
Publication status:
Published

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Publisher copy:
10.1039/b101039p

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Journal:
CHEMICAL COMMUNICATIONS More from this journal
Issue:
11
Pages:
972-973
Publication date:
2001-01-01
DOI:
EISSN:
1364-548X
ISSN:
1359-7345
Language:
English
Pubs id:
pubs:37874
UUID:
uuid:cae906e6-19cc-4a0c-8301-9a7eaf5df9e9
Local pid:
pubs:37874
Source identifiers:
37874
Deposit date:
2012-12-19

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