119
Views
7
CrossRef citations to date
0
Altmetric
Research Article

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

, , , , , , , , , & show all
Pages 210-214 | Received 02 Jul 2010, Accepted 05 Sep 2010, Published online: 11 Oct 2010

References

  • Andersen PM. Genetics of sporadic ALS. Amyotroph Lateral Scler Other Motor Neuron Disord. 2001;2(Suppl 1): S37–41.
  • Rosen DR. Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Taupenot L, Harper KL, O'Connor DT. The chromogranin-secretogranin family. N Engl J Med. 2003;348: 1134–49.
  • Urushitani M, Sik A, Sakurai T, Nukina N, Takahashi R, Julien JP. Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis. Nat Neurosci. 2006;9:108–18.
  • Furukawa Y, Fu R, Deng HX, Siddique T, O'Halloran TV. Disulphide cross-linked protein represents a significant fraction of ALS-associated Cu/Zn superoxide dismutase aggregates in spinal cords of model mice. Proc Natl Acad Sci U S A. 2006;103:7148–53.
  • Rakhit R, Crow JP, Lepock JR, Kondejewski LH, Cashman NR, Chakrabartty A. Monomeric Cu/Zn superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis. J Biol Chem. 2004;279:15499–504.
  • Ezzi SA, Urushitani M, Julien JP. Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J Neurochem. 2007;102:170–8.
  • Schrott-Fischer A, Bitsche M, Humpel C, Walcher C, Maier H, Jellinger K, . Chromogranin peptides in amyotrophic lateral sclerosis. Regul Pept. 2009;152:13–21.
  • Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, . Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009;106: 21777–82.
  • Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Wittwer CT. High resolution DNA melting analysis: advancements and limitations. Hum Mutat. 2009;30:857–9.
  • Logroscino G, Traynor BJ, Hardiman O, Chio A, Couratier P, Mitchell JD, . Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry. 2008;79:6–11.
  • Van Vught PW, Veldink JH, van den Berg LH. P413L CHGB is not associated with ALS susceptibility or age at onset in a Dutch population. Proc Natl Acad Sci U S A. 2010; 107:19.
  • Van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, . Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41: 1083–7.

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.