222
Views
9
CrossRef citations to date
0
Altmetric
Original Article

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS

, , , , , , , , , & show all
Pages 432-435 | Received 28 Jan 2008, Published online: 18 Nov 2009

References

  • Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006; 1762: 956–72
  • Corcia P, Praline J, Vourc'h P, Andres C. Genetics of motor neuron disorders. Rev Neurol (Paris) 2008; 164: 115–30
  • Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, et al. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology. 2006; 67: 1147–50
  • Leigh PN, Whitwell H, Garofalo O, Buller J, Swash M, Martin JE, et al. Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain. 1991; 114: 775–88
  • Ince PG, Lowe J, Shaw PJ. Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol. 1998; 24: 104–17
  • Kawashima T, Furuta A, Doh-ura K, Kikuchi T, Iwaki T. Ubiquitin-immunoreactive skein-like inclusions in the neostriatum are not restricted to amyotrophic lateral sclerosis, but are rather aging-related structures. Acta Neuropathol (Berl) 2000; 100: 43–9
  • van Welsem ME, Hogenhuis JA, Meininger V, Metsaars WP, Hauw JJ, Seilhean D. The relationship between Bunina bodies, skein-like inclusions and neuronal loss in amyotrophic lateral sclerosis. Acta Neuropathol. 2002; 103: 583–9
  • Hoffman EK, Wilcox HM, Scott RW, Siman R. Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis. J Neurol Sci. 1996; 139: 15–20
  • Stieber A, Gonatas JO, Gonatas NK. Aggregation of ubiquitin and a mutant ALS-linked SOD1 protein correlate with disease progression and fragmentation of the Golgi apparatus. J Neurol Sci. 2000; 173: 53–62
  • Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Muh JP, et al. Amyotrophic lateral sclerosis. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol. 2002; 51: 243–6
  • Chang HC, Hung WC, Chuang YJ, Jong YJ. Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int. 2004; 45: 1107–12
  • Kaiser P, Seufert W, Hofferer L, Kofler B, Sachsenmaier C, Herzog H, et al. A human ubiquitin-conjugating enzyme homologous to yeast UBC8. J Biol Chem. 1994; 269: 8797–802
  • Ryu H, Smith K, Camelo SI, Carreras I, Lee J, Iglesias AH, et al. Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice. J Neurochem. 2005; 93: 1087–98
  • Vourc'h P, Martin I, Bonnet-Brilhault F, Marouillat S, Barthélémy C, Pierre Müh J, et al. Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder. Psychiatr Genet. 2003; 13: 221–5
  • Tu PH, Raju P, Robinson KA, Gurney ME, Trojanowski JQ, Lee VM. Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. Proc Natl Acad Sci USA. 1996; 93: 3155–60
  • Gowing G, Dequen F, Soucy G, Julien JP. Absence of tumour necrosis factor-( does not affect motor neuron disease caused by superoxide dismutase 1 mutations. The Journal of Neuroscience. 2006; 44: 11397–402
  • Brooks BR, Miller RG, Swash M, Munsat TL. World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2000; 1: 293–9
  • Sambrook J, Fritsch EF, Maniatis T. Molecular cloning. A laboratory guide. Cold Spring Harbor Laboratories Press, New York 1989; 4–48
  • Wu JK, Ye Z, Darras BT. Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations. Am J Hum Genet. 1993; 52: 1273–5
  • , NCI-NHGRI working group on replication in Association studiesChanock, SJ, Manolio, T, Boehnke, M, Boerwinckle, E, Hunter, DJ, Thomas, G, , et al. Replicating genotype-phenotype associations. Nature. 2007;447:655–60.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.