PEX11β Deficiency Is Lethal and Impairs Neuronal Migration but Does Not Abrogate Peroxisome Function

REFERENCES

• Abe, I., and Y. Fujiki. 1998. cDNA cloning and characterization of a constitutively expressed isoform of the human peroxin Pex11p. Biochem. Biophys. Res. Commun. 252: 529–533.
   PubMedGoogle Scholar
• Abe, I., K. Okumoto, S. Tamura, and Y. Fujiki. 1998. Clofibrate-inducible, 28-kDa peroxisomal integral membrane protein is encoded by PEX11. FEBS Lett. 431: 468–472.
   PubMedGoogle Scholar
• Baes, M., P. Gressens, E. Baumgart, P. Carmeliet, M. Casteels, M. Fransen, P. Evrard, D. Fahimi, P. E. Declercq, D. Collen, P. P. van Veldhoven, and G. P. Mannaerts. 1997. A mouse model for Zellweger syndrome. Nat. Genet. 17: 49–57.
   PubMed Web of Science ®Google Scholar
• Baes, M., S. Huyghe, P. Carmeliet, P. E. Declercq, D. Collen, G. P. Mannaerts, and P. P. Van Veldhoven. 2000. Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. J. Biol. Chem. 275: 16329–16336.
   PubMed Web of Science ®Google Scholar
• Baumgart, E., I. Vanhorebeek, M. Grabenbauer, M. Borgers, P. E. Declercq, H. D. Fahimi, and M. Baes. 2001. Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am. J. Pathol. 159: 1477–1494.
   PubMedGoogle Scholar
• Erdmann, R., and G. Blobel. 1995. Giant peroxisomes in oleic acid-induced Saccharomyces cerevisiae lacking the peroxisomal membrane protein Pmp27p. J. Cell Biol. 128: 509–523.
   PubMed Web of Science ®Google Scholar
• Evan, G. E., G. K. Lewis, G. Ramsay, and J. M. Bishop. 1985. Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product. Mol. Cell. Biol. 5: 3610–3616.
   PubMed Web of Science ®Google Scholar
• Fahimi, H. D. 1969. Cytochemical localization of peroxidatic activity of catalase in rat hepatic microbodies (peroxisomes). J. Cell Biol. 43: 275–288.
   PubMed Web of Science ®Google Scholar
• Faust, P. L., and M. E. Hatten. 1997. Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. J. Cell Biol. 139: 1293–1305.
   PubMedGoogle Scholar
• Goldfischer, S., C. L. Moore, A. B. Johnson, A. J. Spiro, M. P. Valsmis, H. K. Wisniewski, R. H. Ritch, W. T. Norton, I. Rapin, and L. M. Gartner. 1973. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182: 62–64.
   PubMed Web of Science ®Google Scholar
• Gould, S. G., D. Valle, and G. V. Raymond. 2001. The peroxisome biogenesis disorders, p. 3181–3217. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.), The metabolic and molecular bases of inherited disease, 8th ed., vol. 2. McGraw-Hill, New York, N.Y.
   Google Scholar
• Gould, S. J., and D. Valle. 2000. The genetics and cell biology of the peroxisome biogenesis disorders. Trends Genet. 16:340–344.
   PubMed Web of Science ®Google Scholar
• Hogan, B., R. Beddington, F. Costantini, and E. Lacy. 1994. Manipulating the mouse embryo: a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
   Google Scholar
• Kaufmann, W. E., C. Theda, S. Naidu, P. A. Watkins, A. B. Moser, and H. W. Moser. 1996. Neuronal migration abnormality in peroxisomal bifunctional enzyme defect. Ann. Neurol. 39: 268–271.
   PubMed Web of Science ®Google Scholar
• Kersten, S., B. Desvergne, and W. Wahli. 2000. Roles of PPARs in health and disease. Nature 405: 421–424.
   PubMed Web of Science ®Google Scholar
• Kitareewan, S., L. T. Burka, K. B. Tomer, C. E. Parker, L. J. Deterding, R. D. Stevens, B. M. Forman, D. E. Mais, R. A. Heyman, T. McMorris, and C. Weinberger. 1996. Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR. Mol. Biol. Cell 7: 1153–1166.
   PubMedGoogle Scholar
• Lemotte, P. K., S. Keidel, and C. M. Apfel. 1996. Phytanic acid is a retinoid X receptor ligand. Eur. J. Biochem. 236: 328–333.
   PubMedGoogle Scholar
• Li, X., and S. G. Gould. 2002. PEX11 promotes peroxisome division independently of peroxisome metabolism. J. Cell Biol. 156: 643–651.
   PubMed Web of Science ®Google Scholar
• Lorenz, P., A. G. Maier, E. Baumgart, R. Erdmann, and C. Clayton. 1998. Elongation and clustering of glycosomes in Trypanosoma brucei overexpressing the glycosomal Pex11p. EMBO J. 17: 3542–3555.
   PubMedGoogle Scholar
• Lu, J. F., A. M. Lawler, P. A. Watkins, J. M. Powers, A. B. Moser, H. W. Moser, and K. D. Smith. 1997. A mouse model for X-linked adrenoleukodystrophy. Proc. Natl. Acad. Sci. USA 94: 9366–9371.
   PubMed Web of Science ®Google Scholar
• Marshall, P., Y. Krimkevich, R. Lark, J. Dyer, M. Veenhuis, and J. Goodman. 1995. Pmp27 promotes peroxisomal proliferation. J. Cell Biol. 129: 345–355.
   PubMed Web of Science ®Google Scholar
• Mihalik, S., J. Morrell, D. Kim, K. Sacksteder, P. Watkins, and S. Gould. 1997. Identification of PAHX as a Refsum disease gene. Nat. Genet. 17: 185–189.
   PubMedGoogle Scholar
• Moser, A., M. Rasmussen, S. Naidu, P. Watkins, M. McGuinness, A. Hajra, G. Chen, G. Raymond, A. Liu, D. Gordon, K. Garnaas, D. Walton, O. Okjeldal, M. Guggenheim, L. Jackson, E. Elias, and H. Moser. 1995. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr. 127: 13–22.
   PubMed Web of Science ®Google Scholar
• Moser, A. B., N. Kreiter, L. Bezman, S. Lu, G. V. Raymond, S. Naidu, and H. W. Moser. 1999. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann. Neurol. 45: 100–110.
   PubMed Web of Science ®Google Scholar
• Moser, H. W. 1999. Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol. Genet. Metab. 68: 316–327.
   PubMed Web of Science ®Google Scholar
• Moser, H. W., K. D. Smith, P. A. Watkins, J. Powers, and A. B. Moser. 2001. X-linked adrenoleukodystrophy, p. 3257–3301. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.), The metabolic and molecular bases of inherited disease, 8th ed., vol. 2. McGraw-Hill, New York, N.Y.
   Google Scholar
• Passreiter, M., M. Anton, D. Lay, R. Frank, C. Harter, F. T. Wieland, K. Gorgas, and W. W. Just. 1998. Peroxisome biogenesis: involvement of ARF and coatomer. J. Cell Biol. 141: 373–383.
   PubMedGoogle Scholar
• Powers, J. M., and H. W. Moser. 1998. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol. 8: 101–120.
   PubMed Web of Science ®Google Scholar
• Roscher, A., B. Molzer, H. Bernheimer, S. Stockler, I. Mutz, and F. Paltauf. 1985. The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection. Pediatr Res. 19: 930–933.
   PubMedGoogle Scholar
• Sacksteder, K. A., and S. J. Gould. 2000. The genetics of peroxisome biogenesis. Annu. Rev. Genet. 34: 623–652.
   PubMedGoogle Scholar
• Sacksteder, K. A., J. M. Jones, S. T. South, X. Li, Y. Liu, and S. J. Gould. 2000. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. 148: 931–944.
   PubMed Web of Science ®Google Scholar
• Sakai, Y., P. A. Marshall, A. Saiganji, K. Takabe, H. Saiki, N. Kato, and J. M. Goodman. 1995. The Candida boidinii peroxisomal membrane protein Pmp30 has a role in peroxisomal proliferation and is functionally homologous to Pmp27 from Saccharomyces cerevisiae. J. Bacteriol. 177: 6773–6781.
   PubMedGoogle Scholar
• Sambrook, J., E. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
   Google Scholar
• Schrader, M., B. E. Reuber, J. C. Morrell, G. Jimenez-Sanchez, C. Obie, T. Stroh, D. Valle, T. A. Schroer, and S. J. Gould. 1998. Expression of PEX11β mediates peroxisome proliferation in the absence of extracellular stimuli. J. Biol. Chem. 273: 29607–29614.
   PubMed Web of Science ®Google Scholar
• van Roermund, C. W., H. F. Tabak, M. van Den Berg, R. J. Wanders, and E. H. Hettema. 2000. Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae. J. Cell Biol. 150: 489–498.
   PubMedGoogle Scholar
• Wanders, R. J., and J. M. Tager. 1998. Lipid metabolism in peroxisomes in relation to human disease. Mol. Aspects Med. 19: 69–154.
   PubMedGoogle Scholar
• Wanders, R. J., P. Vreken, S. Ferdinandusse, G. A. Jansen, H. R. Waterham, C. W. van Roermund, and E. G. Van Grunsven. 2001. Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases. Biochem. Soc. Trans. 29: 250–267.
   PubMed Web of Science ®Google Scholar
• Wanders, R. J. A., P. G. Barth, and H. S. A. Heymans. 2001. Single peroxisomal enzyme deficiencies, p. 3219–3256. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.), The metabolic and molecular bases of inherited disease, 8th ed., vol. 2. McGraw-Hill, New York, N.Y.
   Google Scholar
• Wanders, R. J. A., C. Jakobs, and O. H. Skejldal. 2001. Refsum disease, p. 3303–3322. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.), The metabolic and molecular bases of inherited disease, 8th ed., vol. 2. McGraw-Hill, New York, N.Y.
   Google Scholar
• Wang, T., A. M. Lawler, G. Steel, and D. Valle. 1995. Paradoxical hypoornithenemia and neonatal lethality in mice with targeted disruption of the OAT gene. Nat. Genet. 11: 185–190.
   PubMedGoogle Scholar
• Watkins, P., E. J. Ferrell, J. Pedersen, and G. Hoefler. 1991. Peroxisomal fatty acid β-oxidation in HepG2 cells. Arch. Biochem. Biophys. 289: 329–366.
   PubMedGoogle Scholar
• Zenger-Hain, J., D. A. Craft, and W. B. Rizzo. 1992. Diagnosis of inborn errors of phytanic acid oxidation with tritiated phytanic acid. Prog. Clin. Biol. Res. 375: 399–407.
   PubMedGoogle Scholar