(Q34437735)

2 August 2017

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title

Refsum disease, peroxisomes and phytanic acid oxidation: a review (English)

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2 August 2017

Wanders RJ

1

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2 August 2017

Jansen GA

series ordinal

2

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2 August 2017

Skjeldal OH

series ordinal

3

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2 August 2017

publication date

1 November 2001

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Journal of Neuropathology & Experimental Neurology

2 August 2017

published in

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2 August 2017

volume

60

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2 August 2017

issue

11

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2 August 2017

page(s)

1021-1031

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[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDR

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Epidermal abnormalities in Refsum's disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

The fatty acid composition of skin and plasma lipids in Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Di-, mono- and nonphytanyl triglycerides in the serum: A sensitive parameter of the phytanic acid accumulation in Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Identification of PAHX, a Refsum disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Peroxisome biogenesis disorders: genetics and cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Peroxisomal disorders: clinical, biochemical, and molecular aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Peroxisome proliferator-activated receptors: a nuclear receptor signaling pathway in lipid physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/ sterol carrier protein x-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

Formation of a 2-methyl-branched fatty aldehyde during peroxisomal α-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.11.1021

21 January 2018

Identifiers

DOI

10.1093/JNEN/60.11.1021

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2 August 2017

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