Genetic and molecular bases of peroxisome biogenesis disorders

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Genetics in Medicine

• Publication date

  2001-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1097/00125817-200109000-00007PMID 11545691
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration

  2004cited by this paper
• Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

  2001cited by this paper
• Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.

  2000cited by this paper
• Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.

  2000cited by this paper
• Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient.

  2000cited by this paper
• Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes.

  2000cited by this paper
• Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans.

  2000cited by this paper
• Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis

  2000cited by this paper
• PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

  2000cited by this paper
• Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1

  2000cited by this paper
• The peroxin pex3p initiates membrane assembly in peroxisome biogenesis.

  2000cited by this paper
• Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

  1999cited by this paper
• Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

  1999cited by this paper
• Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.

  1999cited by this paper
• Involvement of Pex13p in Pex14p Localization and Peroxisomal Targeting Signal 2–dependent Protein Import into Peroxisomes

  1999cited by this paper
• Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import

  1999cited by this paper
• Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

  1998cited by this paper
• Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

  1998cited by this paper
• MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders

  1998cited by this paper
• Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

  1998cited by this paper
• Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts.

  1998cited by this paper
• Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.

  1998cited by this paper
• Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

  1998cited by this paper
• Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.

  1998cited by this paper
• Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

  1997cited by this paper
• Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

  1997cited by this paper
• Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders

  1997cited by this paper
• Targeted Deletion of the PEX2 Peroxisome Assembly Gene in Mice Provides a Model for Zellweger Syndrome, a Human Neuronal Migration Disorder

  1997cited by this paper
• Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

  1997cited by this paper
• A mouse model for Zellweger syndrome

  1997cited by this paper
• Variable peroxisomal and mitochondrial targeting of alanine: Glyoxylate aminotransferase in mammalian evolution and disease

  1997cited by this paper
• Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

  1997cited by this paper
• Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

  1997cited by this paper
• Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

  1996cited by this paper
• Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings

  1996cited by this paper
• Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies

  1995cited by this paper
• Peroxisome assembly factor–2, a putative ATPase cloned by functional complementation on a peroxisome–deficient mammalian cell mutant

  1995cited by this paper
• Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

  1995cited by this paper
• Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.

  1995cited by this paper
• Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

  1995cited by this paper
• Docosahexaenoic acid–A new therapeutic approach to peroxisomal‐disorder patients

  1993cited by this paper
• Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

  1992cited by this paper
• A human gene responsible for Zellweger syndrome that affects peroxisome assembly.

  1992cited by this paper
• Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

  1991cited by this paper
• Severe deficiency of docosahexaenoic acid in peroxisomal disorders

  1990cited by this paper
• Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients

  1989cited by this paper
• Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly.

  1988cited by this paper
• Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

  1988cited by this paper
• Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

  1985cited by this paper
• Primary hyperparathyroidism associated with pancytosis.

  1985cited by this paper
• Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)

  1983cited by this paper
• Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

  1982cited by this paper
• Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

  1982cited by this paper
• Adrenoleukodystrophy

  1978cited by this paper
• A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug.

  1976cited by this paper
• Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome

  1973cited by this paper
• Peroxisomes (microbodies and related particles).

  1966cited by this paper
• A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

  1964cited by this paper

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• Peroxisomal Membrane Contact Sites in Mammalian Cells

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• Plasmalogens: A potential therapeutic target for neurodegenerative and cardiometabolic disease.

  2019cites this paper
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  2005cites this paper
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  2003cites this paper
• Peroxisome biogenesis disorders.

  2003cites this paper
• [Zellweger syndrome. Reports on two new cases].

  2003cites this paper
• Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common PEX10 gene mutation

  2003cites this paper