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Literature DB >> 9053546

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

R J Wanders¹, S Denis, J P Ruiter, R B Schutgens, C W van Roermund, B S Jacobs.

Abstract

One of the main functions of mammalian peroxisomes is the beta-oxidation of a variety of fatty acids and fatty acid derivatives, including very long-chain fatty acids. Oxidation of these fatty acids is deficient in a number of different peroxisomal disorders, including the disorders of peroxisome biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease), X-linked adrenoleukodystrophy and a number of other disorders of peroxisomal beta-oxidation of known and unknown aetiology. Accurate measurement of peroxisomal fatty acid oxidation is of utmost importance for correct postnatal and prenatal diagnosis of these disorders. In this paper we describe a straightforward and accurate assay method to measure the beta-oxidation of palmitic acid (C16:0), hexacosanoic acid (C26:0) and pristanic acid in intact fibroblasts.

Entities: Chemical Disease Species

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Year: 1995 PMID： 9053546 DOI： 10.1007/bf00711434

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

56 in total

1. First prenatal diagnosis of acyl-CoA oxidase deficiency.

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Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

2. A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

Authors: R J Wanders; C W van Roermund; A Schelen; R B Schutgens; J M Tager; J B Stephenson; P T Clayton
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Topographical localization of peroxisomal acyl-CoA ligases: differential localization of palmitoyl-CoA and lignoceroyl-CoA ligases.

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Journal: Biochemistry Date: 1990-04-24 Impact factor: 3.162

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Journal: J Biochem Date: 1985-09 Impact factor: 3.387

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Journal: J Biochem Date: 1980-06 Impact factor: 3.387

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Journal: Arch Dis Child Fetal Neonatal Ed Date: 1994-07 Impact factor: 5.747

7. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.

Authors: I Singh; A E Moser; S Goldfischer; H W Moser
Journal: Proc Natl Acad Sci U S A Date: 1984-07 Impact factor: 11.205

8. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

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Journal: Neuromuscul Disord Date: 1992 Impact factor: 4.296

9. Peroxisomal chain-shortening of thromboxane B2: evidence for impaired degradation of thromboxane B2 in Zellweger syndrome.

Authors: U Diczfalusy; O Vesterqvist; B F Kase; E Lund; S E Alexson
Journal: J Lipid Res Date: 1993-07 Impact factor: 5.922

10. Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids.

Authors: R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; H van den Bosch; A W Schram; J M Tager
Journal: Biochem Biophys Res Commun Date: 1988-06-16 Impact factor: 3.575

27 in total

1. A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

Authors: E Christensen; S A Pedersen; H Leth; C Jakobs; R B Schutgens; R J Wanders
Journal: J Inherit Metab Dis Date: 1997-09 Impact factor: 4.982

2. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Authors: R J Soorani-Lunsing; F J van Spronsen; I Stolte-Dijkstra; R J Wanders; S Ferdinandusse; H R Waterham; B T Poll-The; J P Rake
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

3. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

Authors: Avraham Zeharia; Merel S Ebberink; Ronald J A Wanders; Hans R Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H Korman
Journal: J Hum Genet Date: 2007-05-30 Impact factor: 3.172

4. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.

Authors: R J Wanders; J P Ruiter; F A Wijburg; J Zeman; P Klement; J Houstek
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

5. Genetic heterogeneity in patients with a disorder of peroxisomal beta-oxidation: a complementation study based on pristanic acid beta-oxidation suggesting different enzyme defects.

Authors: E G van Grunsven; R J Wanders
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982

6. Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver.

Authors: N M Verhoeven; D S Schor; G A Jansen; R M Kok; H J ten Brink; R J Wanders; C Jakobs
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982

7. Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2).

Authors: Emmanuelle C Genin; Flore Geillon; Catherine Gondcaille; Anne Athias; Philippe Gambert; Doriane Trompier; Stéphane Savary
Journal: J Biol Chem Date: 2011-01-05 Impact factor: 5.157