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  • Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype

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    Author(s)
    Maxwell, Megan
    Bjorkman, Jonas
    Nguyen, Tam
    Sharp, Peter
    Finnie, John
    Paterson, Carol
    Tonks, Ian
    C. Paton, Barbara
    F. Kay, Graham
    Crane, Denis
    Griffith University Author(s)
    Crane, Denis I.
    Bjorkman, Jonas C.
    Maxwell, Megan
    Nguyen, Tam H.
    Year published
    2003
    Metadata
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    Abstract
    Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. In humans, mutations in the PEX13 gene, which encodes a peroxisomal membrane protein necessary for peroxisomal protein import, can lead to a Zellweger phenotype. To develop mouse models for this disorder, we have generated a targeted mouse with a loxP-modified Pex13 gene to enable conditional Cre recombinase-mediated inactivation of Pex13. In the studies reported here, we crossed these mice with transgenic ...
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    Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. In humans, mutations in the PEX13 gene, which encodes a peroxisomal membrane protein necessary for peroxisomal protein import, can lead to a Zellweger phenotype. To develop mouse models for this disorder, we have generated a targeted mouse with a loxP-modified Pex13 gene to enable conditional Cre recombinase-mediated inactivation of Pex13. In the studies reported here, we crossed these mice with transgenic mice that express Cre recombinase in all cells to generate progeny with ubiquitous disruption of Pex13. The mutant pups exhibited many of the clinical features of Zellweger syndrome patients, including intrauterine growth retardation, severe hypotonia, failure to feed, and neonatal death. These animals lacked morphologically intact peroxisomes and showed deficient import of matrix proteins containing either type 1 or type 2 targeting signals. Biochemical analyses of tissue and cultured skin fibroblasts from these animals indicated severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis. The brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. Thus, Pex13-/- mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans.
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    Journal Title
    Molecular and Cellular Biology
    Volume
    23
    Issue
    16
    DOI
    https://doi.org/10.1128/MCB.23.16.5947-5957.2003
    Copyright Statement
    © 2003 American Society for Microbiology. The attached file is reproduced here in accordance with the copyright policy of the publisher. Please refer to the journal's website for access to the definitive, published version.
    Subject
    Biological Sciences
    Medical and Health Sciences
    Publication URI
    http://hdl.handle.net/10072/6280
    Collection
    • Journal articles

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