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Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

Abstract:

Refsum's disease is a neurological syndrome characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy and phytanic acidaemia. Many cases are caused by mutations in peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PAHX) which catalyses the initial alpha-oxidation step in the degradation of phytanic acid. Both pro and mature forms of recombinant PAHX were produced in Escherichia coli, highly purified, and shown to have a requirement for iron(II) as a co-factor and 2-oxogl...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/10.18.1971

Authors


Mukherji, M More by this author
Kershaw, NJ More by this author
Clifton, IJ More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MPLS, Chemistry, Organic Chemistry
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Journal:
Human molecular genetics
Volume:
10
Issue:
18
Pages:
1971-1982
Publication date:
2001-09-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:f336b6f4-f1fe-45ba-b901-31bf49fcb280
Source identifiers:
31947
Local pid:
pubs:31947

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