- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1093/hmg/10.18.1971
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2001
Journal article
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
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