Lessons from knockout mice. I: Phenotypes of mice with peroxisome biogenesis disorders

Advances in Experimental Medicine and Biology

Volumn 544, Issue , 2003, Pages 113-122

  Baes, Myriam ^a   Van Veldhoven, Paul P ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DOCOSAHEXAENOIC ACID; MEMBRANE PROTEIN; MULTIFUNCTIONAL PROTEIN 1; MULTIFUNCTIONAL PROTEIN 2; N METHYL DEXTRO ASPARTIC ACID; PEROXIN; PEROXISOMAL MEMBRANE PROTEIN 2; PEROXISOMAL MEMBRANE PROTEIN 5; PROTEIN; UNCLASSIFIED DRUG;

ADRENOLEUKODYSTROPHY; BIOGENESIS; BRAIN DISEASE; CELL MIGRATION; CLINICAL FEATURE; CONFERENCE PAPER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; GENE FUNCTION; KNOCKOUT MOUSE; MUSCLE HYPOTONIA; NERVOUS SYSTEM DEVELOPMENT; NEUROTRANSMISSION; NONHUMAN; OXIDATION; PATHOGENESIS; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNAPTOGENESIS; ZELLWEGER SYNDROME;

EID: 1542313740     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-9072-3_16     Document Type: Conference Paper

References (25)

1. Baes, M., Dewerchin, M., Janssen, A., Collen, D., Carmeliet, P., 2002a, Generation of Pex5-IoxP mice allowing the conditional elimination of peroxisomes. Genesis 32: 177-178.
2. Baes, M., Gressens, P., Baumgart, E., Carmeliet, P., Casteels, M., Fransen, M., Evrard, P., Fahimi, D., Declercq, P.E., Collen, D., Van Veldhoven, P.P., Mannaerts, G.P. (1997). A mouse model for Zellweger syndrome. Nat. Genet. 17: 49-57.
3. Baes, M., Gressens, P., Huyghe, S., De Nys, K., Qi, C., Jia, Y., Mannaerts, G.P., Evrard, P., Van Veldhoven, P.P., Declercq, P.E., Reddy, J.K., 2002b. The neuronal migration defect in mice with Zellweger syndrome (Pex5 knockout) is not caused by the inactivity of peroxisomal β-oxidation. J. Neuropath. Exp. Neur. 61: 368-374.
4. Baes, M., Huyghe, S., Carmeliet, P., Declercq, P.E., Collen, D., Mannaerts, G.P., Van Veldhoven, P.P., 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.
5. Baumgart, E., Vanhorebeek, I., Grabenbauer, M., Borgers, M., Declercq, P.E., Fahimi, H.D., Baes, M., 2001, Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (Pex5 knockout mouse). Am. J. Patholog. 159: 1477-1494.
6. Bjorkman, J., Tonks, I., Maxwell, M.A., Paterson, C., Kay, G.F., Crane, D.I., 2002, Conditional inactivation of the peroxisome biogenesis Pex13 gene by Cre-IoxP excision. Genesis 32: 179-180.
7. Brites, P., Motley, A., Gressens, P., Mooyer, P.A.W., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H.R., Wanders, R.J.A., Baes, M., 2003, Impaired neuronal migration and endochondrial ossification in Pex7 knockout mice. In press.
8. Faust, P.L. and Hatten, M.E., 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.
9. Faust, P.L., Su, H.-M., Moser, A., Moser, H.W., 2001, The peroxisome deficient PEX2 Zellweger mouse. J. Mol. Neurosci. 16: 289-297.
10. Goldfischer, S., Moore, C.L., Johnson, A.B., Spiro, A.J., Valsamis, M.P., Wisniewski, H.K., Ritch, R.H., Norton, W.T., Rapin, I., Gartner, L.M., 1973, Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182: 62-64.
11. Gould, S.J., Raymond, G.V., Valle, D., 2001, The peroxisome biogenesis disorders. In The Metabolic and Molecular Bases of Inherited Disease, C.R.Scriver, A.L.Beaudet, D.Valle, and W.S.Sly, eds. (New York: McGraw-Hill), pp. 3181-3217.
12. Green, P. and Yavin, E., 1996, Fatty acid composition of late embryonic and early postnatal rat brain. Lipids 31: 859-865.
13. Gressens, P., Baes, M., Leroux, P., Lombet, A., Van Veldhoven, P., Janssen, A., Vamecq, J., Marret, S., Evrard, P., 2000, Neuronal migration disorder in Zellweger mice is secondary to glutamate receptor dysfunction. Ann. Neurol. 48: 336-343.
14. Hogenboom, S., Romeijn, G.J., Houten, S.M., Baes, M., Wanders, R.J.A., Waterham, H.R., 2002, Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. J. Lipid Res. 43: 90-98.
15. Janssen, A., Baes, M., Gressens, P., Mannaerts, G.P., Declercq, P., Van Veldhoven, P.P., 2000, Docosahexaenoic acid deficit is not a major pathogenic factor in peroxisome-deficient mice. Lab. Invest. 80: 31-35.
16. Komuro, H. and Rakic, P. (1993). Modulation of neuronal migration by NMDA receptors. Science 260: 95-97.
17. Li, X., Baumgart, E., Morrell, J.C., Jimenez-Sanchez, G., Valle, D., Gould, S.J., 2002, PEX11β deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Mol. Cell. Biol. 22: 4358-4365.
18. Martinez, M., 1992, Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res. 583: 171-182.
19. McGuinness, M.C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A.K., Watkins, P.A., Powers J., Smith, K.D., 2003, Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol. Cell. Biol. 23: 744-753.
20. Rakic, P., Cameron, R.S., Komuro, H., 1994, Recognition, adhesion, transmembrane signaling and cell motility in guided neuronal migration. Neurobiology 4: 63-69.
21. Schrader, M., Reuber, B.E., Morrell, J.C., Jimenez-Sanchez, G., Obie, C., Stroh, T.A., Valle, D., Schroer, T.A., Gould, S.J., 1998, Expression of PEX11β mediates peroxisome proliferation in the absence of extracellular stimuli. J. Biol. Chem. 273: 29607-29614.
22. Terlecky, S.R. and Fransen, M., 2000, How Peroxisomes Arise. Traffic 1: 465-473.
23. Torvik, A., Torp, S., Kase, B.E., Ek, J., Skjeldal, O., Stokke, O., 1988, Infantile Refsum's disease: A generalized peroxisomal disorder. Case report with postmortem examination. J. Neurol.Sci. 85: 39-53.
24. Van Veldhoven, P.P., Casteels, M., Mannaerts, G.P., Baes, M., 2001, Further insights into peroxisomal lipid breakdown via α-and β-oxidation. Biochem. Soc. Trans. 29: 292-298.
25. Vanhorebeek, I., Baes, M., Declercq, P.E., 2001, Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model. Biochim. Biophys. Acta 1532: 28-36.