Literature DB >> 9686377

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

G A Jansen1, S Ferdinandusse, O H Skjeldal, O Stokke, C J de Groot, C Jakobs, R J Wanders.   

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Year:  1998        PMID： 9686377     DOI： 10.1023/a:1005388710197

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.

Authors:  G A Jansen; R J Wanders; P A Watkins; S J Mihalik
Journal:  N Engl J Med       Date:  1997-07-10       Impact factor: 91.245

2.  Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Authors:  G A Jansen; R Ofman; S Ferdinandusse; L Ijlst; A O Muijsers; O H Skjeldal; O Stokke; C Jakobs; G T Besley; J E Wraith; R J Wanders
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

3.  Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase.

Authors:  P A Watkins; A E Howard; S J Gould; J Avigan; S J Mihalik
Journal:  J Lipid Res       Date:  1996-11       Impact factor: 5.922

4.  Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.

Authors:  G A Jansen; S J Mihalik; P A Watkins; H W Moser; C Jakobs; S Denis; R J Wanders
Journal:  Biochem Biophys Res Commun       Date:  1996-12-04       Impact factor: 3.575

5.  Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors.

Authors:  S J Mihalik; A M Rainville; P A Watkins
Journal:  Eur J Biochem       Date:  1995-09-01

6.  Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders.

Authors:  H J ten Brink; D S Schor; R M Kok; B T Poll-The; R J Wanders; C Jakobs
Journal:  J Lipid Res       Date:  1992-10       Impact factor: 5.922

7.  Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

Authors:  L IJlst; R J Wanders; S Ushikubo; T Kamijo; T Hashimoto
Journal:  Biochim Biophys Acta       Date:  1994-12-08

8.  Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes.

Authors:  P A Watkins; A E Howard; S J Mihalik
Journal:  Biochim Biophys Acta       Date:  1994-10-06
  8 in total
  1 in total

Review 1.  Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.

Authors:  Julianty Frost; Mark Frost; Michael Batie; Hao Jiang; Sonia Rocha
Journal:  Cancers (Basel)       Date:  2021-01-19       Impact factor: 6.639
  1 in total

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