Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (Q35671322)

9 August 2017

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title

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (English)

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9 August 2017

3

Ronald J A Wanders

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9 August 2017

2

Hans R Waterham

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9 August 2017

Gerbert A Jansen

1

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9 August 2017

publication date

1 March 2004

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9 August 2017

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9 August 2017

volume

23

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9 August 2017

issue

3

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9 August 2017

page(s)

209-218

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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

9 August 2017

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

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

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Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children

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Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein

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7 January 2021

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

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Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange

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7 January 2021

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Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease

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Refsum's disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders

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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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7 January 2021

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

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7 January 2021

Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-binding protein

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7 January 2021

Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase

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7 January 2021

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

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7 January 2021

Identification of PAHX, a Refsum disease gene

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

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7 January 2021

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7 January 2021

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

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7 January 2021

Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)

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7 January 2021

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

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7 January 2021

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

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7 January 2021

Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases

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7 January 2021

Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria

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7 January 2021

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

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7 January 2021

Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis

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7 January 2021

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

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7 January 2021

Identification of PEX7 as the second gene involved in Refsum disease

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https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium-lithium countertransporter

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https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease

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https://api.crossref.org/works/10.1002%2FHUMU.10315

7 January 2021

Identifiers

DOI

10.1002/HUMU.10315

1 reference

9 August 2017

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