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Wanders, RJA Show undefined attributes

created [InstanceEdit:201070] Gopinathrao, G, 2007年07月30日 14:54:02

dbId 201079

displayName Wanders, RJA

firstname Ronald J A

initial RJA

modified [InstanceEdit:9815308] D'Eustachio, Peter, 2022年08月16日

publications

[LiteratureReference:8953413] Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum
[LiteratureReference:880024] D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria
[LiteratureReference:389650] Biochemistry of mammalian peroxisomes revisited
[LiteratureReference:9764596] 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
[LiteratureReference:389602] Phytanic acid alpha-oxidation, new insights into an old problem: a review
[LiteratureReference:390414] Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta
[LiteratureReference:9794615] Carnitine biosynthesis in mammals
[LiteratureReference:9036568] Human disorders of peroxisome metabolism and biogenesis
[LiteratureReference:390405] Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations
[LiteratureReference:200031] Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes
[LiteratureReference:977322] MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency
[LiteratureReference:9857060] Inborn disorders of the malate aspartate shuttle
[LiteratureReference:5684050] Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance
[LiteratureReference:2045971] Studies on the metabolic fate of n-3 polyunsaturated fatty acids
[LiteratureReference:6809276] Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids
[LiteratureReference:389645] Identification of human PMP34 as a peroxisomal ATP transporter
[LiteratureReference:390289] Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts
[LiteratureReference:6810526] Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity
[LiteratureReference:5685060] X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy
[LiteratureReference:1483103] Identification and characterization of human cardiolipin synthase
[LiteratureReference:9911356] Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling
[LiteratureReference:191379] Mevalonate kinase is a cytosolic enzyme in humans
[LiteratureReference:191291] Phosphomevalonate kinase is a cytosolic protein in humans
[LiteratureReference:193392] Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method.
[LiteratureReference:5610031] Clinical features of galactokinase deficiency: a review of the literature
[LiteratureReference:390401] Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
[LiteratureReference:9794623] Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting
[LiteratureReference:549206] Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
[LiteratureReference:193409] 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
[LiteratureReference:6809572] Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation
[LiteratureReference:389890] Subcellular localization and physiological role of alpha-methylacyl-CoA racemase
[LiteratureReference:389882] Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer
[LiteratureReference:6809271] Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
[LiteratureReference:5690426] Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts
[LiteratureReference:880030] L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
[LiteratureReference:390279] Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids
[LiteratureReference:549253] Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
[LiteratureReference:3165233] Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
[LiteratureReference:2066732] Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid
[LiteratureReference:9033860] Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
[LiteratureReference:389997] Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
[LiteratureReference:390239] Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
[LiteratureReference:193432] Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling
[LiteratureReference:9033903] Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines
[LiteratureReference:6811626] Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal
[LiteratureReference:390220] Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy
[LiteratureReference:201067] Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
[LiteratureReference:193502] Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
[LiteratureReference:8955042] Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia
[LiteratureReference:9916589] Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency
[LiteratureReference:9033827] A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
[LiteratureReference:9941183] Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
[LiteratureReference:9815355] Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

schemaClass Person

surname Wanders

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