(Q28293113)

2

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Liumei Wei

3

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Ann Moser

4

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Hugo Moser

5

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Garry Cutting

6

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Nancy Braverman

Molecular Genetics and Metabolism

7

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language of work or name

English

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publication date

November 2004

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published in

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volume

83

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issue

3

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page(s)

252-63

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cites work

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

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

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The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes

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

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

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

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Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

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Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

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Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

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

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Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

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Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

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A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

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Peroxisome biogenesis

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Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

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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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The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

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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

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Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

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Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation

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

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Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

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Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p

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PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

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A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome

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Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient

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Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders

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Proof of "disease causing" mutation

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

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

2584506

2584506

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference