Peroxisomal disorders: clinical, biochemical, and molecular aspects (Q33607754)

28 July 2017

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title

Peroxisomal disorders: clinical, biochemical, and molecular aspects (English)

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28 July 2017

Wanders RJ

1

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28 July 2017

1 April 1999

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28 July 2017

Neurochemical Research

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28 July 2017

24

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28 July 2017

4

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28 July 2017

565-580

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https://scigraph.springernature.com/pub.10.1023/a:1022592014988

28 July 2017

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cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes

1 reference

12 December 2020

An efficient screen for peroxisome-deficient mutants of Pichia pastoris

1 reference

12 December 2020

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

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12 December 2020

Purification and properties of acyl-CoA oxidase from rat liver

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12 December 2020

Clinical and genetic aspects of X-linked adrenoleukodystrophy

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12 December 2020

Identification of PAHX, a Refsum disease gene

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12 December 2020

Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies)

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12 December 2020

Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized

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12 December 2020

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

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12 December 2020

Identification and characterization of the putative human peroxisomal C-terminal targeting signal import receptor

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12 December 2020

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

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12 December 2020

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis

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12 December 2020

Peroxisomal multifunctional enzyme of beta-oxidation metabolizing D-3-hydroxyacyl-CoA esters in rat liver: molecular cloning, expression and characterization

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor

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12 December 2020

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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12 December 2020

Thiolase involved in bile acid formation

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12 December 2020

Peroxisomal bifunctional enzyme deficiency

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12 December 2020

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

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12 December 2020

Biogenesis of peroxisomes

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12 December 2020

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

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12 December 2020

Novel peroxisome clustering mutants and peroxisome biogenesis mutants of Saccharomyces cerevisiae

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12 December 2020

Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13

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12 December 2020

Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

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12 December 2020

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

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12 December 2020

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

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12 December 2020

Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: implications for peroxisomal beta-oxidation disorders.

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12 December 2020

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

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12 December 2020

Substrate specificities of 3-oxoacyl-CoA thiolase A and sterol carrier protein 2/3-oxoacyl-CoA thiolase purified from normal rat liver peroxisomes. Sterol carrier protein 2/3-oxoacyl-CoA thiolase is involved in the metabolism of 2-methyl-branched fa

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12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

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12 December 2020

The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney

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12 December 2020

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

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12 December 2020

Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways

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12 December 2020

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

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12 December 2020

Mutants of the yeast Yarrowia lipolytica defective in protein exit from the endoplasmic reticulum are also defective in peroxisome biogenesis

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12 December 2020

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

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12 December 2020

Lipid biosynthesis in peroxisomes

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Pex17p of Saccharomyces cerevisiae is a novel peroxin and component of the peroxisomal protein translocation machinery

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12 December 2020

Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement

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12 December 2020

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

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12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

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12 December 2020

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

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12 December 2020

Lipid metabolism in peroxisomes in relation to human disease

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12 December 2020

Properties of mitochondria and peroxisomal enoyl-CoA hydratases from rat liver

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12 December 2020

Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity

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12 December 2020

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

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12 December 2020

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

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12 December 2020

Properties of Peroxisomal 3-Ketoacyl-CoA Thiolase from Rat Liver1

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12 December 2020

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

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12 December 2020

Evidence that multifunctional protein 2, and not multifunctional protein 1, is involved in the peroxisomal beta-oxidation of pristanic acid

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12 December 2020

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

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12 December 2020

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

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12 December 2020

A unified nomenclature for peroxisome biogenesis factors

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12 December 2020

Overexpression of Pex15p, a phosphorylated peroxisomal integral membrane protein required for peroxisome assembly in S.cerevisiae, causes proliferation of the endoplasmic reticulum membrane

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12 December 2020

Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein

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12 December 2020

Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders

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12 December 2020

Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import

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12 December 2020

Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system

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12 December 2020

Development of the yeast Pichia pastoris as a model organism for a genetic and molecular analysis of peroxisome assembly

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12 December 2020

Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p

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12 December 2020

Isolation of peroxisome assembly mutants from Saccharomyces cerevisiae with different morphologies using a novel positive selection procedure

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12 December 2020

Peroxisomal disorders: clinical commentary and future prospects

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12 December 2020

Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes

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12 December 2020

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

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12 December 2020

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

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12 December 2020

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

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12 December 2020

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

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12 December 2020

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

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12 December 2020

Peroxisomal disorders: a review

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12 December 2020

Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz

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12 December 2020

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS

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12 December 2020

Peroxisomal disorders in neurology

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12 December 2020

alpha-Oxidation of 3-methyl-substituted fatty acids in rat liver. Production of formic acid instead of CO2, cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate

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12 December 2020

Topography of very-long-chain-fatty-acid-activating activity in peroxisomes from rat liver

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12 December 2020

Enlarged peroxisomes are present in oleic acid-grown Yarrowia lipolytica overexpressing the PEX16 gene encoding an intraperoxisomal peripheral membrane peroxin

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12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

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12 December 2020

Peroxisomes and peroxisomal functions in hyperpipecolic acidaemia

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12 December 2020

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

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12 December 2020

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p

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12 December 2020

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

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12 December 2020

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

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12 December 2020

Studies on the alpha oxidation of phytanic acid by rat liver mitochondria

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12 December 2020

The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes

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12 December 2020

Peroxisomal βoxidation system of rat liver. Copurification of enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase

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12 December 2020

PEX12 encodes an integral membrane protein of peroxisomes

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12 December 2020

Pex19p, a farnesylated protein essential for peroxisome biogenesis

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12 December 2020

Docosahexaenoic acid synthesis in human skin fibroblasts involves peroxisomal retroconversion of tetracosahexaenoic acid

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12 December 2020

The endoplasmic reticulum plays an essential role in peroxisome biogenesis

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12 December 2020

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

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12 December 2020

Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein

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12 December 2020

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

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12 December 2020

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

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12 December 2020

Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation?

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12 December 2020

An efficient positive selection procedure for the isolation of peroxisomal import and peroxisome assembly mutants of Saccharomyces cerevisiae.

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12 December 2020

Peroxisomal beta-oxidation: enzymology and molecular biology

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12 December 2020

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

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12 December 2020

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders

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12 December 2020

L-pipecolate oxidase: a distinct peroxisomal enzyme in man

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12 December 2020

The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis

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12 December 2020

Isolation of peroxisome-deficient mutants of Saccharomyces cerevisiae

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12 December 2020

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

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12 December 2020

Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys.

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12 December 2020

Peroxisomal L-pipecolic acid oxidation is deficient in liver from Zellweger syndrome patients

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12 December 2020

Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders

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12 December 2020

Identifiers

DOI

10.1023/A:1022592014988

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PubMed ID

10227688

Dimensions Publication ID

28 July 2017

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PubMed ID

10227688