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MeSH Review

Adrenoleukodystrophy

 
 
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Disease relevance of Adrenoleukodystrophy

 

High impact information on Adrenoleukodystrophy

  • Conduction to the parietal cortex (T12-P37 interpeak latency) worsened in both the symptomatic men and the boys with preclinical adrenomyeloneuropathy [6].
  • The transmission of adrenomyeloneuropathy, like that of most cases of adrenoleukodystrophy, is sex-linked [1].
  • The extent of both the decrease in peroxisomal VLCS activity and the very long-chain fatty acid accumulation in the yeast FAT1 deletion model resembles that observed in cells from X-linked adrenoleukodystrophy patients [7].
  • Adrenoleukodystrophy (ALD) and its adult variant adrenomyeloneuropathy (AMN) are X-linked diseases in which a deficiency of lignoceroyl-CoA ligase, a peroxisomal enzyme needed for the degradation of very long chain fatty acids (VLCFA), has been reported [8].
  • To define the sensitivity of various tests of adrenal cortical function, we reviewed adrenocortical function tests in 28 patients with adrenomyeloneuropathy who had normal ACTH stimulation tests at the time of enrollment into an ongoing dietary study [9].
 

Chemical compound and disease context of Adrenoleukodystrophy

 

Biological context of Adrenoleukodystrophy

 

Anatomical context of Adrenoleukodystrophy

 

Gene context of Adrenoleukodystrophy

 

Analytical, diagnostic and therapeutic context of Adrenoleukodystrophy

References

  1. Adrenomyeloneuropathy presenting as Addison's disease in childhood. Sadeghi-Nejad, A., Senior, B. N. Engl. J. Med. (1990) [Pubmed]
  2. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Ferdinandusse, S., Denis, S., Clayton, P.T., Graham, A., Rees, J.E., Allen, J.T., McLean, B.N., Brown, A.Y., Vreken, P., Waterham, H.R., Wanders, R.J. Nat. Genet. (2000) [Pubmed]
  3. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stöckler, S., Rabl, W., Gärtner, J., Zierz, S., Roscher, A.A. Am. J. Hum. Genet. (1995) [Pubmed]
  4. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P. Hum. Mol. Genet. (2005) [Pubmed]
  5. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. Liu, L.X., Janvier, K., Berteaux-Lecellier, V., Cartier, N., Benarous, R., Aubourg, P. J. Biol. Chem. (1999) [Pubmed]
  6. A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. Aubourg, P., Adamsbaum, C., Lavallard-Rousseau, M.C., Rocchiccioli, F., Cartier, N., Jambaqué, I., Jakobezak, C., Lemaitre, A., Boureau, F., Wolf, C. N. Engl. J. Med. (1993) [Pubmed]
  7. Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations. Watkins, P.A., Lu, J.F., Steinberg, S.J., Gould, S.J., Smith, K.D., Braiterman, L.T. J. Biol. Chem. (1998) [Pubmed]
  8. Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Moser, H.W. J. Neuropathol. Exp. Neurol. (1995) [Pubmed]
  9. Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy. Blevins, L.S., Shankroff, J., Moser, H.W., Ladenson, P.W. J. Clin. Endocrinol. Metab. (1994) [Pubmed]
  10. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Lazo, O., Contreras, M., Hashmi, M., Stanley, W., Irazu, C., Singh, I. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  11. Metrizamide myelography combined with computed tomography in adrenomyeloneuropathy. Martin, J.J., de Moor, J., Jacobs, K. Arch. Neurol. (1982) [Pubmed]
  12. Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. Zhang, L.X., Bakshi, R., Fine, E., Moser, H.W. J. Neurol. Neurosurg. Psychiatr. (2003) [Pubmed]
  13. Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy. McGovern, M.M., Wasserstein, M.P., Aron, A., Perrine, S.P. J. Pediatr. (2003) [Pubmed]
  14. Adrenal steroids in adrenomyeloneuropathy. Dehydroepiandrosterone sulfate, androstenedione and 17alpha-hydroxyprogesterone. Wichers-Rother, M., Grigull, A., Sokolowski, P., Stoffel-Wagner, B., Köhler, W. J. Neurol. (2005) [Pubmed]
  15. Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Kaplan, P.W., Tusa, R.J., Shankroff, J., Heller, J., Moser, H.W. Ann. Neurol. (1993) [Pubmed]
  16. Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection. Braun, A., Kammerer, S., Ambach, H., Roscher, A.A. Hum. Mutat. (1996) [Pubmed]
  17. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds. van Geel, B.M., Assies, J., Weverling, G.J., Barth, P.G. Neurology (1994) [Pubmed]
  18. 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]
  19. Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein. Steinberg, S.J., Wang, S.J., McGuinness, M.C., Watkins, P.A. Mol. Genet. Metab. (1999) [Pubmed]
  20. Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. Knazek, R.A., Rizzo, W.B., Schulman, J.D., Dave, J.R. J. Clin. Invest. (1983) [Pubmed]
  21. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Moser, H.W., Moser, A.B., Kawamura, N., Murphy, J., Suzuki, K., Schaumburg, H., Kishimoto, Y. Ann. Neurol. (1980) [Pubmed]
  22. A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. Dunne, E., Hyman, N.M., Huson, S.M., Németh, A.H. Ann. Neurol. (1999) [Pubmed]
  23. A combination of spastic paraparesis, polyneuropathy and adrenocortical insufficiency-a childhood form of adrenomyeloneuropathy. Toifl, K., Mamoli, B., Waldhauser, F. J. Neurol. (1981) [Pubmed]
  24. X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases. Jia, Z., Pei, Z., Li, Y., Wei, L., Smith, K.D., Watkins, P.A. Mol. Genet. Metab. (2004) [Pubmed]
  25. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G.F., Casey, R., Zeiss, C., Tyson, H., Cutting, G.R., Raymond, G.V., Smith, K.D., Watkins, P.A., Moser, A.B., Moser, H.W., Steinberg, S.J. Am. J. Hum. Genet. (2002) [Pubmed]
  26. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Gloeckner, C.J., Mayerhofer, P.U., Landgraf, P., Muntau, A.C., Holzinger, A., Gerber, J.K., Kammerer, S., Adamski, J., Roscher, A.A. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  27. Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy. Letizia, C., D'Erasmo, E., Subioli, S., Di Biase, A., Benedetti, S., Bizzarri, C., Ubertini, G., Cappa, M. Horm. Res. (2005) [Pubmed]
  28. Evaluation of the therapeutic potential of PPARalpha agonists for X-linked adrenoleukodystrophy. Rampler, H., Weinhofer, I., Netik, A., Forss-Petter, S., Brown, P.J., Oplinger, J.A., Bugaut, M., Berger, J. Mol. Genet. Metab. (2003) [Pubmed]
  29. X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. Wichers, M., Köhler, W., Brennemann, W., Boese, V., Sokolowski, P., Bidlingmaier, F., Ludwig, M. Hum. Genet. (1999) [Pubmed]
  30. Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography. Kobayashi, T., Katayama, M., Suzuki, S., Tomoda, H., Goto, I., Kuroiwa, Y. J. Neurol. (1983) [Pubmed]
  31. Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants. Molzer, B., Korschinsky, M., Bernheimer, H., Schmid, R., Wolf, C., Roscher, A. Clin. Chim. Acta (1986) [Pubmed]
 
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