Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Human Mutation

• Publication date

  2011-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/humu.21388PMID 21031596
• 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.

• Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

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• Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

  2010cited by this paper
• Mutations in PEX10 are a cause of autosomal recessive ataxia

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• A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

  2009cited by this paper
• Rational diagnostic strategy for Zellweger syndrome spectrum patients

  2009cited by this paper
• Pex2 and Pex12 Function as Protein-Ubiquitin Ligases in Peroxisomal Protein Import

  2009influential reference
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  2009cited by this paper
• Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

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• Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations

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• Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

  2009cited by this paper
• Members of the E2D (UbcH5) Family Mediate the Ubiquitination of the Conserved Cysteine of Pex5p, the Peroxisomal Import Receptor*

  2008influential reference
• Identification of a novel PEX14 mutation in Zellweger syndrome

  2008cited by this paper
• 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 °C

  2007cited by this paper
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  2007cited by this paper
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  2007cited by this paper
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  2006cited by this paper
• Pex14p, more than just a docking protein.

  2006cited by this paper
• Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients

  2006cited by this paper
• Peroxisome biogenesis disorders.

  2006cited by this paper
• Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

  2005cited by this paper
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  2005cited by this paper
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  2005influential reference
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  2004cited by this paper
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  2004cited by this paper
• Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

  2004influential reference
• Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

  2004cited by this paper
• Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

  2004influential reference
• Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

  2004cited by this paper
• Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

  2004cited by this paper
• The pathogenic peroxin Pex26p recruits the Pex1p–Pex6p AAA ATPase complexes to peroxisomes

  2003cited by this paper
• Peroxisome biogenesis disorders.

  2003cited by this paper
• Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

  2003cited by this paper
• Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

  2003cited by this paper
• Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

  2002cited by this paper
• PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

  2002cited by this paper
• A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome.

  2002cited by this paper
• Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

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• Novel PEX1 mutations and genotype–phenotype correlations in Australasian peroxisome biogenesis disorder patients

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• Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

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• The Di-aromatic Pentapeptide Repeats of the Human Peroxisome Import Receptor PEX5 Are Separate High Affinity Binding Sites for the Peroxisomal Membrane Protein PEX14*

  2001cited by this paper
• Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

  2001cited by this paper
• Domain Mapping of Human PEX5 Reveals Functional and Structural Similarities to Saccharomyces cerevisiae Pex18p and Pex21p*

  2001cited by this paper
• Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

  2000influential reference
• Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis

  2000cited by this paper
• Inhibitors of Copi and Copii Do Not Block PEX3-Mediated Peroxisome Synthesis

  2000cited by this paper
• Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.

  2000cited by this paper
• PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.

  2000influential reference
• Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

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

  2000cited by this paper
• Phenotype‐genotype relationships in PEX10‐deficient peroxisome biogenesis disorder patients

  2000cited by this paper
• Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import

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

  1999cited by this paper
• Identification of a common PEX1 mutation in Zellweger syndrome

  1999cited by this paper
• Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

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

  1999cited by this paper
• Peroxisome Synthesis in the Absence of Preexisting Peroxisomes

  1999cited by this paper
• PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

  1999cited by this paper
• Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

  1999cited by this paper
• 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

  1998cited by this paper
• Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

  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
• Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

  1998cited by this paper
• Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

  1998cited by this paper
• A novel mutation, R125X in peroxisome assembly factor‐1 responsible for zellweger syndrome

  1998cited by this paper
• Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

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

  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1995cited by this paper
• Disorders of peroxisome biogenesis.

  1995cited by this paper
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  1993cited by this paper
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  1988cited by this paper
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