(Q35908942)

11 August 2017

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title

Peroxisomes, lipid metabolism, and peroxisomal disorders (English)

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11 August 2017

Wanders RJ

1

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11 August 2017

1 September 2004

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Molecular Genetics and Metabolism

11 August 2017

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11 August 2017

83

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11 August 2017

16-27

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11 August 2017

1-2

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Peroxisome biogenesis disorders: genetics and cell biology

11 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Functions and biosynthesis of plasmalogens in health and disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Identification of PAHX, a Refsum disease gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in Rhizomelic Chondrodysplasia Punctata fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Purification and characterization of an alpha-methylacyl-CoA racemase from human liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Stereochemistry of peroxisomal and mitochondrial beta-oxidation of alpha-methylacyl-CoAs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

The role Acyl-CoA thioesterases play in mediating intracellular lipid metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

L-lactate dehydrogenase A4- and A3B isoforms are bona fide peroxisomal enzymes in rat liver. Evidence for involvement in intraperoxisomal NADH reoxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Peroxisomal bifunctional enzyme deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

[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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Phytanic acid alpha-oxidation, new insights into an old problem: a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.08.016

10.1016/J.YMGME.2004.08.016

7 January 2021

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15464416