Homo sapiens by Pubmed references

2010 Romana HŲftberger Endocrinology Peroxisomal localization of the proopiomelanocortin-derived peptides beta-lipotropin and beta-endorphin.[Pubmed]
2009 Fumie Hashimoto Biol. Pharm. Bull. Effects of WY-14643 on peroxisomal enzyme activity and hormone secretion in immortalized human trophoblast cells.[Pubmed]
2009 A Steinberg J. Inherit. Metab. Dis. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.[Pubmed]
2009 Kumiko Shiozawa J. Biol. Chem. Solution structure of human Pex5.Pex14.PTS1 protein complexes obtained by small angle X-ray scattering.[Pubmed]
2009 Christian Neufeld EMBO J. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19.[Pubmed]
2009 Bao Lige Mol. Biol. Cell Role of an ancestral d-bifunctional protein containing two sterol-carrier protein-2 domains in lipid uptake and trafficking in Toxoplasma.[Pubmed]
2009 Barbara Cellini J. Biol. Chem. Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.[Pubmed]
2009 Yik Yik Hum. Mutat. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.[Pubmed]
2009 Cindy Krause Eur. J. Hum. Genet. Rational diagnostic strategy for Zellweger syndrome spectrum patients.[Pubmed]
2009 Frederiks Frederiks Acta Histochem. Renal cell carcinoma and oxidative stress: The lack of peroxisomes.[Pubmed]
2009 Janet Ebberink Hum. Mutat. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.[Pubmed]
2008 Koepke Koepke Toxicol. Appl. Pharmacol. Progeric effects of catalase inactivation in human cells.[Pubmed]
2008 M Engelen Biochim. Biophys. Acta Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.[Pubmed]
2008 Rosalba Carrozzo Am. J. Med. Genet. A Peroxisomal acyl-CoA-oxidase deficiency: two new cases.[Pubmed]
2008 I Huybrechts J. Med. Genet. Identification of a novel PEX14 mutation in Zellweger syndrome.[Pubmed]
2008 Masanori Honsho Biochim. Biophys. Acta Isolation and characterization of mutant animal cell line defective in alkyl-dihydroxyacetonephosphate synthase: localization and transport of plasmalogens to post-Golgi compartments.[Pubmed]
2008 Mariarita Bertoldi Biochim. Biophys. Acta Reactions of human liver peroxisomal alanine:glyoxylate aminotransferase with beta-chloro-L-alanine and L-cysteine: spectroscopic and kinetic analysis.[Pubmed]
2008 M Morita J. Inherit. Metab. Dis. Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation.[Pubmed]
2008 Mok Mok In-vitro differentiation study on isolated human mesenchymal stem cells.[Pubmed]
2008 Barbara Cellini Protein Pept. Lett. Construction, purification and characterization of untagged human liver alanine-glyoxylate aminotransferase expressed in Escherichia coli.[Pubmed]
2008 Beibei Luo J. Mol. Biol. Protein quaternary structure and expression levels contribute to peroxisomal-targeting-sequence-1-mediated peroxisomal import of human soluble epoxide hydrolase.[Pubmed]
2008 Yukio Fujiki Biochem. Soc. Trans. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis.[Pubmed]
2008 Paolo Lasorsa J. Biol. Chem. Peroxisomes as novel players in cell calcium homeostasis.[Pubmed]
2008 Mitsunori Ikeda Biol. Pharm. Bull. Characterization of peroxisomal targeting signals on alanine: glyoxylate aminotransferase.[Pubmed]
2008 Lodewijk Visser FASEB J. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.[Pubmed]
2008 David Saggerson Annu. Rev. Nutr. Malonyl-CoA, a key signaling molecule in mammalian cells.[Pubmed]
2008 Michael Delille J. Biol. Chem. Targeting of hFis1 to peroxisomes is mediated by Pex19p.[Pubmed]
2008 Yasuhiko Sato J. Biol. Chem. Characterization of the interaction between recombinant human peroxin Pex3p and Pex19p: identification of TRP-104 IN Pex3p as a critical residue for the interaction.[Pubmed]
2007 Kerry-Ann Koepke Traffic Restoration of peroxisomal catalase import in a model of human cellular aging.[Pubmed]
2007 Turner Turner Am. J. Med. Genet. A Zellweger syndrome resulting from maternal isodisomy of chromosome 1.[Pubmed]
2007 Terlecky Terlecky Adv. Drug Deliv. Rev. Drug delivery to peroxisomes: employing unique trafficking mechanisms to target protein therapeutics.[Pubmed]
2007 Avraham Zeharia J. Hum. Genet. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.[Pubmed]
2007 Yoshinori Kashiwayama J. Biol. Chem. Hydrophobic regions adjacent to transmembrane domains 1 and 5 are important for the targeting of the 70-kDa peroxisomal membrane protein.[Pubmed]
2007 Janet Waterham N. Engl. J. Med. A lethal defect of mitochondrial and peroxisomal fission.[Pubmed]
2007 M Casteels Biochem. Soc. Trans. The role of 2-hydroxyacyl-CoA lyase, a thiamin pyrophosphate-dependent enzyme, in the peroxisomal metabolism of 3-methyl-branched fatty acids and 2-hydroxy straight-chain fatty acids.[Pubmed]
2007 N Shimozawa J. Inherit. Metab. Dis. Molecular and clinical aspects of peroxisomal diseases.[Pubmed]
2007 Sebastian Wiese Mol. Cell Proteomics Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling.[Pubmed]
2007 Shinta Kobayashi Exp. Cell Res. Fis1, DLP1, and Pex11p coordinately regulate peroxisome morphogenesis.[Pubmed]
2007 Stephan Wanders Pflugers Arch. The peroxisomal ABC transporter family.[Pubmed]
2007 Edmondson Edmondson Structure Plasmalogen assembly: a key flavoenzyme.[Pubmed]
2007 Wierzbicki Wierzbicki Biochem. Soc. Trans. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.[Pubmed]
2007 Justyna Paprocka Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency.[Pubmed]
2007 Luigi Ko J. Biol. Chem. The sterol carrier protein SCP-x/pro-SCP-2 gene has transcriptional activity and regulates the Alzheimer disease gamma-secretase.[Pubmed]
2007 Xueying Kovacs Histochem. Cell Biol. Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes.[Pubmed]
2007 Norimasa Takahashi J. Neurochem. Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.[Pubmed]
2006 Masashi Morita Biol. Pharm. Bull. ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells.[Pubmed]
2006 Marten Veenhuis Biochim. Biophys. Acta PTS1-independent sorting of peroxisomal matrix proteins by Pex5p.[Pubmed]
2006 Cindy Krause Hum. Mutat. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.[Pubmed]
2006 Michinori Funato Brain Dev. Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.[Pubmed]
2006 Terlecky Terlecky Biochim. Biophys. Acta Peroxisomes and aging.[Pubmed]
2006 Hua Wood Traffic Hypocatalasemic fibroblasts accumulate hydrogen peroxide and display age-associated pathologies.[Pubmed]
2006 Francesco Regoli Environ. Health Perspect. Use of the land snail Helix aspersa as sentinel organism for monitoring ecotoxicologic effects of urban pollution: an integrated approach.[Pubmed]
2006 Cécile Brocard Biochim. Biophys. Acta Peroxisome targeting signal 1: is it really a simple tripeptide?[Pubmed]
2006 J Gloerich FEBS Lett. Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation.[Pubmed]
2006 Shigehiko Tamura J. Biol. Chem. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.[Pubmed]
2006 Danpure Danpure Biochim. Biophys. Acta Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.[Pubmed]
2006 Wei Fan Biochem. Biophys. Res. Commun. A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif.[Pubmed]
2006 Jo√£o Carvalho J. Mol. Biol. The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain.[Pubmed]
2006 Lodewijk Visser Biochem. Biophys. Res. Commun. First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization.[Pubmed]
2006 Marinus Groothoff Mol. Genet. Metab. High incidence of hyperoxaluria in generalized peroxisomal disorders.[Pubmed]
2006 Satomi Furuki J. Biol. Chem. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.[Pubmed]
2006 Gabriele Steinberg Biochim. Biophys. Acta Peroxisome biogenesis disorders.[Pubmed]
2005 L Moser J. Inherit. Metab. Dis. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.[Pubmed]
2005 Sabine Weller Am. J. Hum. Genet. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.[Pubmed]
2005 Christopher Brocard Traffic Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.[Pubmed]
2005 Clara Guimar√£es J. Hum. Genet. Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.[Pubmed]
2005 Sidney Mak Horm. Res. Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.[Pubmed]
2005 Shan Zha Prostate Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer.[Pubmed]
2005 Allison Pledgie J. Biol. Chem. Spermine oxidase SMO(PAOh1), Not N1-acetylpolyamine oxidase PAO, is the primary source of cytotoxic H2O2 in polyamine analogue-treated human breast cancer cell lines.[Pubmed]
2005 Wenhua Alphey J. Biol. Chem. Structure and reactivity of human mitochondrial 2,4-dienoyl-CoA reductase: enzyme-ligand interactions in a distinctive short-chain reductase active site.[Pubmed]
2005 Nobuyuki Shimozawa J. Child Neurol. Molecular and neurologic findings of peroxisome biogenesis disorders.[Pubmed]
2005 Mazen Dhaunsi Very-long-chain fatty acids activate lysosomal hydrolases in neonatal human skin tissue.[Pubmed]
2005 Antje Boll J. Histochem. Cytochem. Elongation of peroxisomes as an indicator for efficient dynamin-like protein 1 knock down in mammalian cells.[Pubmed]
2005 Misao Hachiya Radiat. Res. Catalase regulates cell growth in HL60 human promyelocytic cells: evidence for growth regulation by H(2)O(2).[Pubmed]
2005 Ingrid Banmeyer FEBS Lett. Human mitochondrial peroxiredoxin 5 protects from mitochondrial DNA damages induced by hydrogen peroxide.[Pubmed]
2005 Muriel Asheuer Hum. Mol. Genet. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.[Pubmed]
2005 I Soorani-Lunsing J. Inherit. Metab. Dis. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.[Pubmed]
2005 Jo√£o Costa-Rodrigues J. Biol. Chem. Pex5p, the peroxisomal cycling receptor, is a monomeric non-globular protein.[Pubmed]
2005 H Rosewich J. Med. Genet. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.[Pubmed]
2005 Crane Crane Hum. Mutat. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.[Pubmed]
2004 Caldwell Caldwell Hum. Genet. Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations.[Pubmed]
2004 Martha Baker Am. J. Physiol., Cell Physiol. Glycolate and glyoxylate metabolism in HepG2 cells.[Pubmed]
2004 Jeannette Gootjes Pediatr. Res. Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.[Pubmed]
2004 Gill Danpure Molecular aetiology of primary hyperoxaluria and its implications for clinical management.[Pubmed]
2004 Steven Steinberg Mol. Genet. Metab. The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.[Pubmed]
2004 Jeannette Michelakakis Pediatr. Neurol. PEX1 deficiency presenting as Leber congenital amaurosis.[Pubmed]
2004 Charles Peters Blood Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.[Pubmed]
2004 Wanders Wanders Am. J. Med. Genet. A Metabolic and molecular basis of peroxisomal disorders: a review.[Pubmed]
2004 Jeannette Poll-The Am. J. Med. Genet. A Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.[Pubmed]
2004 Sietske Hogenboom J. Lipid Res. Phosphomevalonate kinase is a cytosolic protein in humans.[Pubmed]
2004 Antonella Peduto Mol. Genet. Metab. Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.[Pubmed]
2004 J Barth Neurology Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.[Pubmed]
2004 Jeannette Gootjes Eur. J. Hum. Genet. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.[Pubmed]
2004 Gregory Madrid Mol. Cell. Biol. Modulation of the Leishmania donovani peroxin 5 quaternary structure by peroxisomal targeting signal 1 ligands.[Pubmed]
2004 Fumie Hashimoto Biochem. Pharmacol. PPARalpha agonists clofibrate and gemfibrozil inhibit cell growth, down-regulate hCG and up-regulate progesterone secretions in immortalized human trophoblast cells.[Pubmed]
2004 Maynard Maynard Proteins Pex5p binding affinities for canonical and noncanonical PTS1 peptides.[Pubmed]
2004 Yasusada Kawada Mol. Genet. Metab. Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients.[Pubmed]
2004 Kohichiroh Yasui Cancer Res. Alteration in copy numbers of genes as a mechanism for acquired drug resistance.[Pubmed]
2004 Nobuo Makino Biochim. Biophys. Acta A metabolic model describing the H2O2 elimination by mammalian cells including H2O2 permeation through cytoplasmic and peroxisomal membranes: comparison with experimental data.[Pubmed]
2004 V Schröder Acta Neuropathol. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.[Pubmed]
2004 Hiroyuki Shibata J. Biol. Chem. Domain architecture and activity of human Pex19p, a chaperone-like protein for intracellular trafficking of peroxisomal membrane proteins.[Pubmed]
2004 Michel Marcil High-density lipoproteins: multifunctional vanguards of the cardiovascular system.[Pubmed]
2004 Jeannette Gootjes Hum. Mutat. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.[Pubmed]
2004 J Gootjes Neurology Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.[Pubmed]
2004 Ingrid Banmeyer Free Radic. Biol. Med. Overexpression of human peroxiredoxin 5 in subcellular compartments of Chinese hamster ovary cells: effects on cytotoxicity and DNA damage caused by peroxides.[Pubmed]
2004 Wenwu Gao Neurosci. Lett. Insulin degrading enzyme is expressed in the human cerebrovascular endothelium and in cultured human cerebrovascular endothelial cells.[Pubmed]
2004 Marc Fransen J. Biol. Chem. Potential role for Pex19p in assembly of PTS-receptor docking complexes.[Pubmed]
2004 Jansen Jansen Hum. Mutat. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).[Pubmed]
2004 Danpure Danpure Nephron Exp. Nephrol. Molecular aetiology of primary hyperoxaluria type 1.[Pubmed]
2004 Sietske Hogenboom J. Cell. Sci. Mevalonate kinase is a cytosolic enzyme in humans.[Pubmed]
2004 Jones Jones J. Cell Biol. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.[Pubmed]
2003 Sietske Hogenboom Mol. Genet. Metab. Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts.[Pubmed]
2003 Wolf-H Muntau Eur. J. Cell Biol. The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis.[Pubmed]
2003 Thomas Koeck Int. J. Biochem. Cell Biol. L-Carnitine alters nitric oxide synthase activity in fibroblasts depending on the peroxisomal status.[Pubmed]
2003 Nobuyuki Shimozawa Adv. Exp. Med. Biol. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.[Pubmed]
2003 Martina Biermanns Eur. J. Cell Biol. The peroxisomal membrane targeting elements of human peroxin 2 (PEX2).[Pubmed]
2003 Xiaoxuan Zhang J. Mol. Biol. Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.[Pubmed]
2003 Abdelraheim Abdelraheim Biochem. J. Mammalian NADH diphosphatases of the Nudix family: cloning and characterization of the human peroxisomal NUDT12 protein.[Pubmed]
2003 Stéphanie Boisnard Mol. Microbiol. Overexpression of a human and a fungal ABC transporter similarly suppresses the differentiation defects of a fungal peroxisomal mutant but introduces pleiotropic cellular effects.[Pubmed]
2003 A Santana Proc. Natl. Acad. Sci. U.S.A. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.[Pubmed]
2003 Jeannette Gootjes Adv. Exp. Med. Biol. Biochemical markers predicting survival in peroxisome biogenesis disorders.[Pubmed]
2003 Lumb Lumb Biochem. J. Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro.[Pubmed]
2003 Xiaoxuan Danpure Biochim. Biophys. Acta Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.[Pubmed]
2003 Gatto Gatto Biochemistry Correlating structure and affinity for PEX5:PTS1 complexes.[Pubmed]
2003 Jutta Gärtner Adv. Exp. Med. Biol. Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)?[Pubmed]
2003 Harper Harper J. Biol. Chem. PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.[Pubmed]
2003 Yun Shen-Ong Cancer Res. Expression profiling identifies a novel alpha-methylacyl-CoA racemase exon with fumarate hydratase homology.[Pubmed]
2003 Tracy Setchell Gastroenterology Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.[Pubmed]
2003 Sacha Ferdinandusse Mol. Genet. Metab. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.[Pubmed]
2003 Cristiano Rizzo Pediatr. Res. Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.[Pubmed]
2003 S Gesta Horm. Metab. Res. Culture of human adipose tissue explants leads to profound alteration of adipocyte gene expression.[Pubmed]
2003 Motoki Tagami Cell Tissue Res. Genetic and ultrastructural demonstration of strong reversibility in human mesenchymal stem cell.[Pubmed]
2003 R Wightman Hum. Mutat. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.[Pubmed]
2003 Mikinori Kurisu Biochem. Biophys. Res. Commun. Existence of catalase-less peroxisomes in Sf21 insect cells.[Pubmed]
2003 Gabriele Muntau Adv. Exp. Med. Biol. Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET).[Pubmed]
2002 Nobuyuki Shimozawa Biochem. Biophys. Res. Commun. A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.[Pubmed]
2002 Pedro Motley Am. J. Hum. Genet. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.[Pubmed]
2002 Hidenori Otera Mol. Cell. Biol. Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import.[Pubmed]
2002 Tuinstra Tuinstra Arch. Biochem. Biophys. Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase.[Pubmed]
2002 J Gärtner Endocr. Res. Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.[Pubmed]
2002 J Gootjes Neurology Biochemical markers predicting survival in peroxisome biogenesis disorders.[Pubmed]
2002 Tanja Mayerhofer Biochem. Biophys. Res. Commun. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.[Pubmed]
2002 Holbrook Holbrook J. Biol. Chem. Molecular basis for the dual mitochondrial and cytosolic localization of alanine:glyoxylate aminotransferase in amphibian liver cells.[Pubmed]
2002 Tamara Maxwell Hum. Mutat. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.[Pubmed]
2002 Masanori Honsho J. Biol. Chem. The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly.[Pubmed]
2002 Natalie Preuss Pediatr. Res. PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.[Pubmed]
2002 Aritoshi Iida J. Hum. Genet. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.[Pubmed]
2002 Jukka Kallijärvi Am. J. Hum. Genet. The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.[Pubmed]
2002 Deyanira Corzo Am. J. Hum. Genet. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.[Pubmed]
2002 Paton Paton Prenat. Diagn. Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.[Pubmed]
2002 Sacha Ferdinandusse Biochem. Biophys. Res. Commun. Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.[Pubmed]
2002 S Ferdinandusse J. Lipid Res. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.[Pubmed]
2002 Ida Veenhuis Curr. Opin. Cell Biol. Peroxisomes: flexible and dynamic organelles.[Pubmed]
2002 Visser Visser Biochem. Biophys. Res. Commun. Identification of human PMP34 as a peroxisomal ATP transporter.[Pubmed]
2002 S Ferdinandusse Am. J. Hum. Genet. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.[Pubmed]
2002 Suresh Subramani J. Cell Biol. Hitchhiking fads en route to peroxisomes.[Pubmed]
2002 Annick Raas-Rothschild Am. J. Hum. Genet. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.[Pubmed]
2002 Yasuyuki Suzuki J. Pediatr. Peroxisomal acyl CoA oxidase deficiency.[Pubmed]
2002 Chris Legakis Mol. Biol. Cell Peroxisome senescence in human fibroblasts.[Pubmed]
2002 Nancy Braverman Hum. Mutat. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.[Pubmed]
2001 A Imamura J. Med. Genet. Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders.[Pubmed]
2001 Su Su J. Biol. Chem. Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.[Pubmed]
2001 R Ofman Biochem. Biophys. Res. Commun. 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.[Pubmed]
2001 E Meyhi Eur. J. Clin. Invest. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.[Pubmed]
2001 A Jankowski J. Biol. Chem. In situ measurements of the pH of mammalian peroxisomes using the fluorescent protein pHluorin.[Pubmed]
2001 Clayton Clayton Biochem. Soc. Trans. Clinical consequences of defects in peroxisomal beta-oxidation.[Pubmed]
2001 G Rothardt Cell. Mol. Life Sci. Peroxisomes in the apocrine sweat glands of the human axilla and their putative role in pheromone production.[Pubmed]
2001 K Kahlos Cancer Expression and prognostic significance of catalase in malignant mesothelioma.[Pubmed]
2001 S Kemp Hum. Mutat. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.[Pubmed]
2001 J Saidowsky J. Biol. Chem. The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14.[Pubmed]
2001 M Biermanns Biochem. Biophys. Res. Commun. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes.[Pubmed]
2001 P Roerig FEBS Lett. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.[Pubmed]
2001 M Fransen Mol. Cell. Biol. Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.[Pubmed]
2001 S Ferdinandusse J. Lipid Res. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.[Pubmed]
2001 H Mulder J. Biol. Chem. Overexpression of a modified human malonyl-CoA decarboxylase blocks the glucose-induced increase in malonyl-CoA level but has no impact on insulin secretion in INS-1-derived (832/13) beta-cells.[Pubmed]
2001 T Voorn-Brouwer J. Cell. Sci. Peroxisomal membrane proteins are properly targeted to peroxisomes in the absence of COPI- and COPII-mediated vesicular transport.[Pubmed]
2001 Jones Jones J. Cell Biol. Multiple distinct targeting signals in integral peroxisomal membrane proteins.[Pubmed]
2001 C Walter Am. J. Hum. Genet. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.[Pubmed]
2001 Dansen Dansen Histochem. J. Targeted fluorescent probes in peroxisome function.[Pubmed]
2001 R Ito Biochem. Biophys. Res. Commun. Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene.[Pubmed]
2001 Johnson Johnson Plant Physiol. Building new models for peroxisome biogenesis.[Pubmed]
2000 C Fujiwara J. Biol. Chem. Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.[Pubmed]
2000 P Barnett EMBO J. The peroxisomal membrane protein Pex13p shows a novel mode of SH3 interaction.[Pubmed]
2000 S Ferdinandusse J. Lipid Res. Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.[Pubmed]
2000 Olivier Olivier Biochim. Biophys. Acta Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes.[Pubmed]
2000 A Pujol Genomics Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin.[Pubmed]
2000 Houten Houten Biochim. Biophys. Acta Biochemical and genetic aspects of mevalonate kinase and its deficiency.[Pubmed]
2000 L IJlst Biochem. Biophys. Res. Commun. Molecular cloning and expression of human L-pipecolate oxidase.[Pubmed]
2000 I Kerckaert Virchows Arch. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency.[Pubmed]
2000 M Grabenbauer Cell Biochem. Biophys. Three-dimensional ultrastructural analysis of peroxisomes in HepG2 cells. Absence of peroxisomal reticulum but evidence of close spatial association with the endoplasmic reticulum.[Pubmed]
2000 Warren Warren Hum. Mutat. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.[Pubmed]
2000 K Ghaedi Am. J. Hum. Genet. PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.[Pubmed]
2000 A Imamura Brain Dev. Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.[Pubmed]
2000 T Osumi Cell Biochem. Biophys. Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.[Pubmed]
2000 S Muntau Am. J. Hum. Genet. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.[Pubmed]
2000 S Jansen J. Inherit. Metab. Dis. Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.[Pubmed]
2000 K Schriner Mutat. Res. Overexpression of wild-type and nuclear-targeted catalase modulates resistance to oxidative stress but does not alter spontaneous mutant frequencies at APRT.[Pubmed]
2000 F Antunes FEBS Lett. Estimation of H2O2 gradients across biomembranes.[Pubmed]
2000 T Hashimoto Cell Biochem. Biophys. Peroxisomal beta-oxidation enzymes.[Pubmed]
2000 Gatto Gatto Nat. Struct. Biol. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5.[Pubmed]
2000 Lumb Lumb J. Biol. Chem. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.[Pubmed]
2000 M Ito Biochim. Biophys. Acta Rapid isolation and characterization of CHO mutants deficient in peroxisome biogenesis using the peroxisomal forms of fluorescent proteins.[Pubmed]
2000 Gatto Gatto Proteins A proposed model for the PEX5-peroxisomal targeting signal-1 recognition complex.[Pubmed]
2000 M Itoh Brain Res. Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome.[Pubmed]
2000 N Shimozawa Biochem. Biophys. Res. Commun. Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient.[Pubmed]
2000 G Dodt Cell Biochem. Biophys. The human L-pipecolic acid oxidase is similar to bacterial monomeric sarcosine oxidases rather than D-amino acid oxidases.[Pubmed]
2000 G Dodt Biochem. J. L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases.[Pubmed]
2000 K Solaas J. Lipid Res. Subcellular organization of bile acid amidation in human liver: a key issue in regulating the biosynthesis of bile salts.[Pubmed]
2000 C Baumgartner Ann. Neurol. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.[Pubmed]
2000 G Unterrainer Hum. Mol. Genet. Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.[Pubmed]
2000 S Ferdinandusse Nat. Genet. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.[Pubmed]
1999 N Santanam Arterioscler. Thromb. Vasc. Biol. Overexpression of human catalase gene decreases oxidized lipid-induced cytotoxicity in vascular smooth muscle cells.[Pubmed]
1999 C Wanders J. Inherit. Metab. Dis. Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).[Pubmed]
1999 N Shimozawa Hum. Mol. Genet. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.[Pubmed]
1999 Moser Moser Mol. Genet. Metab. Genotype-phenotype correlations in disorders of peroxisome biogenesis.[Pubmed]
1999 Y Suzuki J. Hum. Genet. Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.[Pubmed]
1999 M al-Essa Zellweger syndrome in Saudi Arabia and its distinct features.[Pubmed]
1999 N Shimozawa J. Hum. Genet. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.[Pubmed]
1999 A Holzinger Biochem. Biophys. Res. Commun. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.[Pubmed]
1999 A Netik Hum. Mol. Genet. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.[Pubmed]
1999 Chang Chang J. Cell Biol. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.[Pubmed]
1999 K Litwin Virchows Arch. Immunocytochemical investigation of catalase and peroxisomal lipid beta-oxidation enzymes in human hepatocellular tumors and liver cirrhosis.[Pubmed]
1999 South South J. Cell Biol. Peroxisome synthesis in the absence of preexisting peroxisomes.[Pubmed]
1999 N Shimozawa Biochem. Biophys. Res. Commun. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.[Pubmed]
1999 S Chang J. Cell. Sci. Metabolic control of peroxisome abundance.[Pubmed]
1999 Ramsay Ramsay Adv. Exp. Med. Biol. Selective modulation of carnitine long-chain acyltransferase activities. Kinetics, inhibitors, and active sites of COT and CPT-II.[Pubmed]
1999 Braiterman Braiterman Mol. Genet. Metab. Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression.[Pubmed]
1999 W Schliebs J. Biol. Chem. Recombinant human peroxisomal targeting signal receptor PEX5. Structural basis for interaction of PEX5 with PEX14.[Pubmed]
1999 J Biermann IUBMB Life Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.[Pubmed]
1999 Lumb Lumb J. Biol. Chem. Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase.[Pubmed]
1999 M Yamasaki J. Biol. Chem. Formation of peroxisomes from peroxisomal ghosts in a peroxisome-deficient mammalian cell mutant upon complementation by protein microinjection.[Pubmed]
1999 L Ijlst J. Lipid Res. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.[Pubmed]
1999 J Biermann Arch. Biochem. Biophys. In vitro processing of the human alkyl-dihydroxyacetonephosphate synthase precursor.[Pubmed]
1999 McGuinness McGuinness Arch. Immunol. Ther. Exp. (Warsz.) Cerebral inflammation in X-linked adrenoleukodystrophy.[Pubmed]
1999 J Biermann Eur. J. Biochem. Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes.[Pubmed]
1999 Collins Collins Hum. Mutat. Identification of a common PEX1 mutation in Zellweger syndrome.[Pubmed]
1999 F Lledías Photochem. Photobiol. Oxidation of human catalase by singlet oxygen in myeloid leukemia cells.[Pubmed]
1999 J Gärtner J. Inherit. Metab. Dis. Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.[Pubmed]
1999 N Shimozawa J. Med. Genet. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.[Pubmed]
1998 Wanders Wanders Mol. Aspects Med. Lipid metabolism in peroxisomes in relation to human disease.[Pubmed]
1998 C Baumgartner Neurology Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease.[Pubmed]
1998 N Nagan Biochem. J. Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol.[Pubmed]
1998 Wanders Wanders J. Inherit. Metab. Dis. Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.[Pubmed]
1998 J Gärtner Eur. J. Cell Biol. Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.[Pubmed]
1998 C Verhoeven J. Lipid Res. Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.[Pubmed]
1998 P Vreken J. Lipid Res. Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency.[Pubmed]
1998 M Battaile Biochim. Biophys. Acta Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA.[Pubmed]
1998 S Braiterman Hum. Mol. Genet. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.[Pubmed]
1998 Chang Chang Am. J. Hum. Genet. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.[Pubmed]
1998 N Braverman Hum. Mol. Genet. An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.[Pubmed]
1998 Birdsey Birdsey Biochem. J. Evolution of alanine:glyoxylate aminotransferase intracellular targeting: structural and functional analysis of the guinea pig gene.[Pubmed]
1998 E Ijlst Proc. Natl. Acad. Sci. U.S.A. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.[Pubmed]
1998 L Ijlst J. Biol. Chem. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.[Pubmed]
1998 A Imamura Hum. Mol. Genet. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.[Pubmed]
1997 I Singh Biochem. Mol. Med. Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease.[Pubmed]
1997 Magalh√£es Magalh√£es Microsc. Res. Tech. Peroxisomes in adrenal steroidogenesis.[Pubmed]
1997 T Jiang J. Biochem. Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein.[Pubmed]
1997 Infante Infante Mol. Cell. Biochem. On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders.[Pubmed]
1997 A Holzinger Biochem. Biophys. Res. Commun. Primary structure of human PMP69, a putative peroxisomal ABC-transporter.[Pubmed]
1997 J Biermann Eur. J. Biochem. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.[Pubmed]
1997 H Thai FEBS Lett. Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase.[Pubmed]
1997 K Tateishi Eur. J. Cell Biol. Newly identified Chinese hamster ovary cell mutants defective in peroxisome biogenesis represent two novel complementation groups in mammals.[Pubmed]
1997 N Shani Hum. Mol. Genet. Identification of a fourth half ABC transporter in the human peroxisomal membrane.[Pubmed]
1997 Leiper Leiper Clin. Chim. Acta A unique molecular basis for enzyme mistargeting in primary hyperoxaluria type 1.[Pubmed]
1997 Danpure Danpure Bioessays Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease.[Pubmed]
1997 H 1997 Biochim. Biophys. Acta Alkyl-dihydroxyacetonephosphate synthase.[Pubmed]
1997 V Chesneau Endocrinology Insulin-degrading enzyme does not require peroxisomal localization for insulin degradation.[Pubmed]
1996 Motley Motley Biochim. Biophys. Acta Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.[Pubmed]
1996 K Lhotta Nephrol. Dial. Transplant. Primary hyperoxaluria type 1 caused by peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase.[Pubmed]
1996 F Authier Insulin-degrading enzyme.[Pubmed]
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1996 C Eyskens Kidney Int. Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.[Pubmed]
1996 G Lombard-Platet Proc. Natl. Acad. Sci. U.S.A. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.[Pubmed]
1996 Oatey Oatey Eur. J. Biochem. Molecular basis of the variable mitochondrial and peroxisomal localisation of alanine-glyoxylate aminotransferase.[Pubmed]
1996 K Burdette Neurology Late-onset generalized disorder of peroxisomes.[Pubmed]
1996 R Chambliss J. Biol. Chem. Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence.[Pubmed]
1996 H Hebestreit Eur. J. Pediatr. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.[Pubmed]
1996 N Shimozawa Pediatr. Res. Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.[Pubmed]
1996 Y Suzuki Jpn. J. Hum. Genet. Incidence of peroxisomal disorders in Japan.[Pubmed]
1996 D Fahimi Histochem. Cell Biol. Contributions of the immunogold technique to investigation of the biology of peroxisomes.[Pubmed]
1996 G Dodt J. Cell Biol. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor.[Pubmed]
1996 M Dauca Biol. Neonate Peroxisomes and peroxisomal enzymes in the human fetal small intestine.[Pubmed]
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1995 F Watkins Am. J. Hum. Genet. Altered expression of ALDP in X-linked adrenoleukodystrophy.[Pubmed]
1995 K Kremser Nitric oxide regulates peroxisomal enzyme activities.[Pubmed]
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1995 A Motley J. Cell Biol. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1.[Pubmed]
1995 M Espeel J. Inherit. Metab. Dis. Immunocytochemical localization of peroxisomal proteins in human liver and kidney.[Pubmed]
1995 R Wanders J. Inherit. Metab. Dis. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.[Pubmed]
1995 Danpure Danpure Nephrol. Dial. Transplant. Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.[Pubmed]
1995 Watkins Watkins Ann. Neurol. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies.[Pubmed]
1995 C Wanders J. Inherit. Metab. Dis. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.[Pubmed]
1994 James James J. Biol. Chem. PxF, a prenylated protein of peroxisomes.[Pubmed]
1994 J Mosser Hum. Mol. Genet. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.[Pubmed]
1994 P Aubourg Curr. Opin. Genet. Dev. Adrenoleukodystrophy and other peroxisomal diseases.[Pubmed]
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1994 O Corti Genomics Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.[Pubmed]
1994 H Mandel J. Pediatr. A new type of peroxisomal disorder with variable expression in liver and fibroblasts.[Pubmed]
1994 M Schrader Eur. J. Cell Biol. Heterogeneity of peroxisomes in human hepatoblastoma cell line HepG2. Evidence of distinct subpopulations.[Pubmed]
1994 G Danpure Hum. Genet. Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.[Pubmed]
1994 P Danpure J. Inherit. Metab. Dis. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.[Pubmed]
1994 Y Suzuki Am. J. Hum. Genet. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.[Pubmed]
1993 J Mosser Nature Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.[Pubmed]
1993 G Vanhove Biochem. J. Mitochondrial short-chain acyl-CoA dehydrogenase of human liver and kidney can function as an oxidase.[Pubmed]
1993 Pedersen Pedersen Biochimie Peroxisomal oxidation of the steroid side chain in bile acid formation.[Pubmed]
1993 J Zomer Biochim. Biophys. Acta Ether lipid synthesis: purification and identification of alkyl dihydroxyacetone phosphate synthase from guinea-pig liver.[Pubmed]
1993 E Hughes Morphometry of peroxisomes and immunolocalization of peroxisomal proteins in the liver of patients with generalised peroxisomal disorders.[Pubmed]
1993 S Houdou Mol. Chem. Neuropathol. Immunohistochemical expression of peroxisomal enzymes in developing human brain.[Pubmed]
1993 N Shimozawa Am. J. Hum. Genet. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.[Pubmed]
1993 A Kamei J. Pediatr. Peroxisomal disorders in children: immunohistochemistry and neuropathology.[Pubmed]
1993 K Nishiyama J. Cell Biol. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.[Pubmed]
1993 G Metges Different (13)CO(2) recovery of orally administered [1-(13)C]- and [8-(13)C] triolein in postprandial humans: an effect of phosphoenolpyruvate-carboxykinase (EC in peripheral tissues?[Pubmed]
1993 Brady Brady FASEB J. Regulation of the long-chain carnitine acyltransferases.[Pubmed]
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1993 D Litthauer Int. J. Biochem. Mitochondrial and peroxisomal fractions derived from human white adipocytes.[Pubmed]
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1992 A Heikoop Hum. Genet. Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.[Pubmed]
1992 M Farstad Biochem. J. The activity and subcellular distribution of the peroxisomal enzyme acyl-CoA oxidase in human blood platelets.[Pubmed]
1992 F Keller J. Pathol. Peroxisomal enzymes in normal and tumoral human breast.[Pubmed]
1992 Rao Rao Biochim. Biophys. Acta Assay for L-pipecolate oxidase activity in human liver: detection of enzyme deficiency in hyperpipecolic acidaemia.[Pubmed]
1992 L Espeel Neuromuscul. Disord. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.[Pubmed]
1992 J Gärtner Nat. Genet. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.[Pubmed]
1992 S Cablé Virchows Arch., B, Cell Pathol. Peroxisomes in human colon carcinomas. A cytochemical and biochemical study.[Pubmed]
1992 S Emami Arch Dermatol Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.[Pubmed]
1992 A Hughes Eur. J. Pediatr. Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.[Pubmed]
1992 H Okamoto Exp. Cell Res. Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly.[Pubmed]
1992 Y Suzuki Cell Struct. Funct. Different intracellular localization of peroxisomal proteins in fibroblasts from patients with aberrant peroxisome assembly.[Pubmed]
1992 Williams Williams J. Lipid Res. HMG-CoA reductase inhibitors perturb fatty acid metabolism and induce peroxisomes in keratinocytes.[Pubmed]
1992 C Samsom J. Inherit. Metab. Dis. Zellweger syndrome in a preterm, small for gestational age infant.[Pubmed]
1992 H Stanczak Hum. Hered. Complementation in Zellweger syndrome: biochemical analysis of newly generated peroxisomes.[Pubmed]
1992 A Katz Kidney Int. Success of kidney transplantation in oxalosis is unrelated to residual hepatic enzyme activity.[Pubmed]
1992 H Singh J. Lipid Res. Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts.[Pubmed]
1992 Watts Watts Adv. Enzyme Regul. Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.[Pubmed]
1992 K Fukui J. Biol. Chem. Molecular cloning and chromosomal localization of a human gene encoding D-amino-acid oxidase.[Pubmed]
1991 J Purdue Hum. Genet. An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.[Pubmed]
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1991 J Aikawa Proc. Natl. Acad. Sci. U.S.A. Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts.[Pubmed]
1991 L Bäckman Exp. Mol. Pathol. Modulation of metabolism in HepG2 cells upon treatment with cyclosporin A and Nva2-cyclosporin.[Pubmed]
1991 K De-Netto Adv. Exp. Med. Biol. Human hepatic peroxisomes with crystalloid cores associated with urate oxidase activity.[Pubmed]
1991 I Singh Arch. Biochem. Biophys. Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.[Pubmed]
1991 Wolvetang Wolvetang Biochim. Biophys. Acta Factors influencing the latency of the peroxisomal enzyme dihydroxyacetone-phosphate acyltransferase (DHAP-AT) in permeabilized human skin fibroblasts.[Pubmed]
1991 M Wiemer Biochim. Biophys. Acta Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.[Pubmed]
1991 S Brul J. Inherit. Metab. Dis. Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome.[Pubmed]
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1990 P Danpure J. Cell. Sci. Subcellular distribution of hepatic alanine:glyoxylate aminotransferase in various mammalian species.[Pubmed]
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1990 Rao Rao Biochim. Biophys. Acta L-pipecolic acid metabolism in human liver: detection of L-pipecolate oxidase and identification of its reaction product.[Pubmed]
1990 A Balfe Pediatr. Res. Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.[Pubmed]
1990 C Wanders Biochem. Biophys. Res. Commun. Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome.[Pubmed]
1990 H Pike J. Pediatr. Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.[Pubmed]
1990 E Wanders J. Neurol. Sci. Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.[Pubmed]
1990 Gordon Gordon J. Clin. Invest. Hydroxyeicosatetraenoic acid metabolism in cultured human skin fibroblasts. Evidence for peroxisomal beta-oxidation.[Pubmed]
1989 O Poll-The Hum. Genet. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.[Pubmed]
1989 S Guerroui Biochem. Biophys. Res. Commun. Molecular analysis of peroxisomal beta-oxidation enzymes in infants with peroxisomal disorders indicates heterogeneity of the primary defect.[Pubmed]
1989 T Zoeller J. Biol. Chem. Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome.[Pubmed]
1988 S Brul J. Clin. Invest. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.[Pubmed]
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1988 Cooper Cooper J. Histochem. Cytochem. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.[Pubmed]
1988 T Santos J. Biol. Chem. Peroxisomal integral membrane proteins in control and Zellweger fibroblasts.[Pubmed]
1988 N Shimozawa Pediatr. Res. Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy.[Pubmed]
1988 A Litwin Histochem. J. Detection of peroxisomes in human liver and kidney fixed with formalin and embedded in paraffin: the use of catalase and lipid beta-oxidation enzymes as immunocytochemical markers.[Pubmed]
1988 Y Suzuki Clin. Chim. Acta Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder.[Pubmed]
1988 H Wanders J. Inherit. Metab. Dis. X-linked adrenoleukodystrophy: identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts.[Pubmed]
1988 Y Suzuki J. Pediatr. Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.[Pubmed]
1988 A Litwin Virchows Arch., B, Cell Pathol. Immunocytochemical demonstration of peroxisomal enzymes in human kidney biopsies.[Pubmed]
1988 F Poll-The Am. J. Hum. Genet. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).[Pubmed]
1988 H Wanders Biochem. Biophys. Res. Commun. Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome.[Pubmed]
1987 H Singh Arch. Biochem. Biophys. Beta-oxidation of very-long-chain fatty acids and their coenzyme A derivatives by human skin fibroblasts.[Pubmed]
1987 K Barth J. Inherit. Metab. Dis. A sibship with a mild variant of Zellweger syndrome.[Pubmed]
1987 G Schutgens J. Inherit. Metab. Dis. Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.[Pubmed]
1987 Webber Webber Arch. Biochem. Biophys. Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls.[Pubmed]
1987 Wise Wise FEBS Lett. Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1.[Pubmed]
1987 R Wanders Clin. Chim. Acta Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome.[Pubmed]
1987 S Yokota Histochemistry Immunocytochemical localization of serine: pyruvate aminotransferase in peroxisomes of the human liver parenchymal cells.[Pubmed]
1987 A Schutgens Enzyme Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.[Pubmed]
1987 H Singh Arch. Biochem. Biophys. Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts.[Pubmed]
1986 J Vamecq Am. J. Pathol. Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy.[Pubmed]
1986 S Goldfischer J. Pediatr. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.[Pubmed]
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1986 G Wanders Eur. J. Pediatr. A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.[Pubmed]
1986 G Wanders Eur. J. Pediatr. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.[Pubmed]
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1984 Datta Datta N. Engl. J. Med. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.[Pubmed]
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1984 L Batt Res. Vet. Sci. Morphological and biochemical studies of a naturally occurring enteropathy in the Irish setter dog: a comparison with coeliac disease in man.[Pubmed]
1983 T Shah Clin. Exp. Immunol. Lymphocyte enzyme activities in immunodeficiency syndromes with particular reference to common variable hypogammaglobulinaemia.[Pubmed]
1983 T Shah Cell Biochem. Funct. Enzyme analysis and subcellular fractionation of human peripheral blood lymphocytes with special reference to the localization of putative plasma membrane enzymes.[Pubmed]
1983 J Bremer Physiol. Rev. Carnitine--metabolism and functions.[Pubmed]
1981 J Dawson Regul. Pept. Characterisation of gut hormone storage granules from normal human jejunum using metrizamide density gradients.[Pubmed]
1980 Sima Sima Acta Neuropathol. Peroxisomes (microbodies) in human glial tumors. a cytochemical ultrastructural study.[Pubmed]
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0 Mol. Genet. Metab. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.[Pubmed]
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