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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Canavan Disease

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Disease relevance of Canavan Disease


High impact information on Canavan Disease


Chemical compound and disease context of Canavan Disease


Biological context of Canavan Disease

  • While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings [15].

Gene context of Canavan Disease


Analytical, diagnostic and therapeutic context of Canavan Disease


  1. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Leone, P., Janson, C.G., Bilaniuk, L., Wang, Z., Sorgi, F., Huang, L., Matalon, R., Kaul, R., Zeng, Z., Freese, A., McPhee, S.W., Mee, E., During, M.J., Bilianuk, L. Ann. Neurol. (2000) [Pubmed]
  2. Mendelian diseases among Roman Jews: implications for the origins of disease alleles. Oddoux, C., Guillen-Navarro, E., Ditivoli, C., Dicave, E., Cilio, M.R., Clayton, C.M., Nelson, H., Sarafoglou, K., McCain, N., Peretz, H., Seligsohn, U., Luzzatto, L., Nafa, K., Nardi, M., Karpatkin, M., Aksentijevich, I., Kastner, D., Axelrod, F., Ostrer, H. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  3. Carrier testing for autosomal-recessive disorders. Vallance, H., Ford, J. Critical reviews in clinical laboratory sciences. (2003) [Pubmed]
  4. Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. Surendran, S., Ezell, E.L., Quast, M.J., Wei, J., Tyring, S.K., Michals-Matalon, K., Matalon, R. Neurosci. Lett. (2004) [Pubmed]
  5. Adeno-associated virus as a gene therapy vector: vector development, production and clinical applications. Grieger, J.C., Samulski, R.J. Adv. Biochem. Eng. Biotechnol. (2005) [Pubmed]
  6. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Kaul, R., Gao, G.P., Balamurugan, K., Matalon, R. Nat. Genet. (1993) [Pubmed]
  7. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Kaul, R., Gao, G.P., Matalon, R., Aloya, M., Su, Q., Jin, M., Johnson, A.B., Schutgens, R.B., Clarke, J.T. Am. J. Hum. Genet. (1996) [Pubmed]
  8. Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease. Klugmann, M., Leichtlein, C.B., Symes, C.W., Serikawa, T., Young, D., During, M.J. Mol. Ther. (2005) [Pubmed]
  9. Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease. Matalon, R., Surendran, S., Rady, P.L., Quast, M.J., Campbell, G.A., Matalon, K.M., Tyring, S.K., Wei, J., Peden, C.S., Ezell, E.L., Muzyczka, N., Mandel, R.J. Mol. Ther. (2003) [Pubmed]
  10. Characterization of human aspartoacylase: the brain enzyme responsible for canavan disease. Le Coq, J., An, H.J., Lebrilla, C., Viola, R.E. Biochemistry (2006) [Pubmed]
  11. Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion. Moreno, A., Ross, B.D., Blüml, S. J. Neurochem. (2001) [Pubmed]
  12. Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Wevers, R.A., Engelke, U., Wendel, U., de Jong, J.G., Gabreëls, F.J., Heerschap, A. Clin. Chem. (1995) [Pubmed]
  13. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Grodd, W., Krägeloh-Mann, I., Klose, U., Sauter, R. Radiology. (1991) [Pubmed]
  14. In vivo quantitation of cerebral metabolite concentrations using natural abundance 13C MRS at 1.5 T. Blüml, S. J. Magn. Reson. (1999) [Pubmed]
  15. Imaging studies in a unique familial dysmyelinating disorder. Gripp, K.W., Zimmerman, R.A., Wang, Z.J., Rorke, L.B., Duhaime, A.C., Schut, L., Molloy, P.T., Tucker, S.H., Zackai, E.H., Muenke, M. AJNR. American journal of neuroradiology. (1998) [Pubmed]
  16. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. Matalon, R., Rady, P.L., Platt, K.A., Skinner, H.B., Quast, M.J., Campbell, G.A., Matalon, K., Ceci, J.D., Tyring, S.K., Nehls, M., Surendran, S., Wei, J., Ezell, E.L., Szucs, S. The journal of gene medicine. (2000) [Pubmed]
  17. Developmental increase of aspartoacylase in oligodendrocytes parallels CNS myelination. Kirmani, B.F., Jacobowitz, D.M., Namboodiri, M.A. Brain Res. Dev. Brain Res. (2003) [Pubmed]
  18. Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. Bettecken, T., Rubie, C., Lichtner, P., Siekiera, M., Meitinger, T., Stöber, G. Mol. Cell. Probes (2002) [Pubmed]
  19. Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease. Baslow, M.H., Suckow, R.F., Hungund, B.L. J. Inherit. Metab. Dis. (2000) [Pubmed]
  20. N-acetylaspartic aciduria in Canavan disease: another proof in two infants. Yalaz, K., Topçu, M., Topaloğlu, H., Gürçay, O., Ozcan, O.E., Onol, B., Renda, Y. Neuropediatrics. (1990) [Pubmed]
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