Literature DB >> 9266377

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.

G A Jansen1, S J Mihalik, P A Watkins, H W Moser, C Jakobs, H S Heijmans, R J Wanders.   

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Year:  1997        PMID： 9266377     DOI： 10.1023/a:1005379406639

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


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  10 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

Review 2.  Proteins involved in peroxisome biogenesis and functioning.

Authors:  Y Elgersma; H F Tabak
Journal:  Biochim Biophys Acta       Date:  1996-10-29

Review 3.  Disorders of peroxisome biogenesis.

Authors:  N Braverman; G Dodt; S J Gould; D Valle
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150

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

Review 5.  Peroxisomal disorders: a review.

Authors:  R J Wanders; R B Schutgens; P G Barth
Journal:  J Neuropathol Exp Neurol       Date:  1995-09       Impact factor: 3.685

6.  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

7.  Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

Authors:  H J ten Brink; F Stellaard; C M van den Heuvel; R M Kok; D S Schor; R J Wanders; C Jakobs
Journal:  J Lipid Res       Date:  1992-01       Impact factor: 5.922

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

9.  Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.

Authors:  O H Skjeldal; O Stokke; S Refsum; J Norseth; H Petit
Journal:  J Neurol Sci       Date:  1987-01       Impact factor: 3.181

10.  Differential protein import deficiencies in human peroxisome assembly disorders.

Authors:  A Motley; E Hettema; B Distel; H Tabak
Journal:  J Cell Biol       Date:  1994-05       Impact factor: 10.539
  10 in total
  3 in total

Review 1.  Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Authors:  P E Purdue; M Skoneczny; X Yang; J W Zhang; P B Lazarow
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

Authors:  R J Wanders; G J Romeijn
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

Authors:  Alana Aylward; Yi Cai; Andrew Lee; Elizabeth Blue; Daniel Rabinowitz; Joseph Haddad
Journal:  Genet Epidemiol       Date:  2016-05-27       Impact factor: 2.135
  3 in total

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