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

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2 August 2017

Jansen GA

series ordinal

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2 August 2017

Skjeldal OH

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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

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2 August 2017

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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

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

21 January 2018

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21 January 2018

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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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of PAHX, a Refsum disease gene

21 January 2018

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/JNEN/60.11.1021

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2 August 2017

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