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MeSH Review

Peroxisomal Disorders

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Disease relevance of Peroxisomal Disorders


High impact information on Peroxisomal Disorders


Chemical compound and disease context of Peroxisomal Disorders


Biological context of Peroxisomal Disorders


Anatomical context of Peroxisomal Disorders


Gene context of Peroxisomal Disorders


Analytical, diagnostic and therapeutic context of Peroxisomal Disorders


  1. Adrenomyeloneuropathy presenting as Addison's disease in childhood. Sadeghi-Nejad, A., Senior, B. N. Engl. J. Med. (1990) [Pubmed]
  2. The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene. Rehling, P., Marzioch, M., Niesen, F., Wittke, E., Veenhuis, M., Kunau, W.H. EMBO J. (1996) [Pubmed]
  3. A mouse model for X-linked adrenoleukodystrophy. Lu, J.F., Lawler, A.M., Watkins, P.A., Powers, J.M., Moser, A.B., Moser, H.W., Smith, K.D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  4. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Nadal, N., Rolland, M.O., Tranchant, C., Reutenauer, L., Gyapay, G., Warter, J.M., Mandel, J.L., Koenig, M. Hum. Mol. Genet. (1995) [Pubmed]
  5. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Toyama, R., Mukai, S., Fujiki, Y., Tsukamoto, T., Osumi, T., Orii, T., Wanders, R.J., Kondo, N. Hum. Mol. Genet. (1999) [Pubmed]
  6. Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement. Subramani, S. Physiol. Rev. (1998) [Pubmed]
  7. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. Moser, A.E., Singh, I., Brown, F.R., Solish, G.I., Kelley, R.I., Benke, P.J., Moser, H.W. N. Engl. J. Med. (1984) [Pubmed]
  8. Convergence of model systems for peroxisome biogenesis. Subramani, S. Curr. Opin. Cell Biol. (1996) [Pubmed]
  9. Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. Wanders, R.J., van Roermund, C.W., van Wijland, M.J., Schutgens, R.B., Heikoop, J., van den Bosch, H., Schram, A.W., Tager, J.M. J. Clin. Invest. (1987) [Pubmed]
  10. Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. Faust, P.L., Hatten, M.E. J. Cell Biol. (1997) [Pubmed]
  11. Impaired membrane traffic in defective ether lipid biosynthesis. Thai, T.P., Rodemer, C., Jauch, A., Hunziker, A., Moser, A., Gorgas, K., Just, W.W. Hum. Mol. Genet. (2001) [Pubmed]
  12. A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. Tranchant, C., Aubourg, P., Mohr, M., Rocchiccioli, F., Zaenker, C., Warter, J.M. Neurology (1993) [Pubmed]
  13. Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation? Martínez, M. Neurology (1990) [Pubmed]
  14. Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases. Martinez, M., Pineda, M., Vidal, R., Conill, J., Martin, B. Neurology (1993) [Pubmed]
  15. Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders. Martínez, M., Vázquez, E., García-Silva, M.T., Manzanares, J., Bertran, J.M., Castelló, F., Mougan, I. Am. J. Clin. Nutr. (2000) [Pubmed]
  16. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Matsumoto, N., Tamura, S., Furuki, S., Miyata, N., Moser, A., Shimozawa, N., Moser, H.W., Suzuki, Y., Kondo, N., Fujiki, Y. Am. J. Hum. Genet. (2003) [Pubmed]
  17. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors. Schrakamp, G., Schalkwijk, C.G., Schutgens, R.B., Wanders, R.J., Tager, J.M., van den Bosch, H. J. Lipid Res. (1988) [Pubmed]
  18. Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice. Savary, S., Troffer-Charlier, N., Gyapay, G., Mattei, M.G., Chimini, G. Eur. J. Hum. Genet. (1997) [Pubmed]
  19. Docosahexaenoic acid in the diet: its importance in maintenance and restoration of neural membrane function. Horrocks, L.A., Farooqui, A.A. Prostaglandins Leukot. Essent. Fatty Acids (2004) [Pubmed]
  20. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. Montagna, G., Di Biase, A., Cappa, M., Melone, M.A., Piantadosi, C., Colabianchi, D., Patrono, C., Attori, L., Cannelli, N., Cotrufo, R., Salvati, S., Santorelli, F.M. Hum. Mutat. (2005) [Pubmed]
  21. Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Fujiki, Y. J. Clin. Invest. (1992) [Pubmed]
  22. Mutations in the adrenoleukodystrophy gene. Dodd, A., Rowland, S.A., Hawkes, S.L., Kennedy, M.A., Love, D.R. Hum. Mutat. (1997) [Pubmed]
  23. Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: therapeutic implications. Martinez, M. J. Inherit. Metab. Dis. (1995) [Pubmed]
  24. Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. Bachir Bioukar, E., Straehli, F., Ng, K.H., Rolland, M.O., Hashimoto, T., Carreau, J.P., Deschatrette, J. J. Inherit. Metab. Dis. (1994) [Pubmed]
  25. Clinical and genetic aspects of X-linked adrenoleukodystrophy. Gärtner, J., Braun, A., Holzinger, A., Roerig, P., Lenard, H.G., Roscher, A.A. Neuropediatrics. (1998) [Pubmed]
  26. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Tamura, S., Okumoto, K., Toyama, R., Shimozawa, N., Tsukamoto, T., Suzuki, Y., Osumi, T., Kondo, N., Fujiki, Y. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  27. The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. Kallijärvi, J., Avela, K., Lipsanen-Nyman, M., Ulmanen, I., Lehesjoki, A.E. Am. J. Hum. Genet. (2002) [Pubmed]
  28. Identification of PEX7 as the second gene involved in Refsum disease. van den Brink, D.M., Brites, P., Haasjes, J., Wierzbicki, A.S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G.A., Waterham, H.R., Wanders, R.J. Am. J. Hum. Genet. (2003) [Pubmed]
  29. Genomic organization of the adrenoleukodystrophy gene. Sarde, C.O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.L. Genomics (1994) [Pubmed]
  30. Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. Maxwell, M.A., Allen, T., Solly, P.B., Svingen, T., Paton, B.C., Crane, D.I. Hum. Mutat. (2002) [Pubmed]
  31. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. Ek, J., Kase, B.F., Reith, A., Björkhem, I., Pedersen, J.I. J. Pediatr. (1986) [Pubmed]
  32. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R.J., Kondo, N. Brain Dev. (2003) [Pubmed]
  33. Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. Hughes, J.L., Poulos, A., Robertson, E., Chow, C.W., Sheffield, L.J., Christodoulou, J., Carter, R.F. Virchows Archiv. A, Pathological anatomy and histopathology. (1990) [Pubmed]
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