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Original Article

Polymorphisms in protein disulfide isomerase are associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population

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Pages 607-611 | Received 14 Mar 2015, Accepted 06 May 2015, Published online: 20 Aug 2015

References

  • Kwok CT, Morris AG, Frampton J, et al. Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis. Free Radic Biol Med 2013;58:81–6.
  • Blauw HM, Veldink JH, van Es MA, , et al. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol 2008;7:319–26.
  • Mitchell JD, Borasio GD. Amyotrophic lateral sclerosis. Lancet 2007;369:2031–41.
  • Mulder DW, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986;36:511–7.
  • Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 2001;344:1688–700.
  • Dunckley T, Huentelman MJ, Craig DW, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 2007;357:775–88.
  • Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet 2006;38:411–3.
  • Lambrechts D, Storkebaum E, Morimoto M, et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003;34:383–94.
  • van Es MA, Van Vught PW, Blauw HM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol 2007;6:869–77.
  • van Es MA, van Vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008;40:29–31.
  • Gilbert HF. Protein disulfide isomerase and assisted protein folding. J Biol Chem 1997;272:29399–402.
  • Atkin JD, Farg MA, Walker AK, et al. Endoplasmic reticulum stress and induction of the unfolded protein response in human sporadic amyotrophic lateral sclerosis. Neurobiol Dis 2008;30:400–07.
  • Ilieva EV, Ayala V, Jove M, et al. Oxidative and endoplasmic reticulum stress interplay in sporadic amyotrophic lateral sclerosis. Brain 2007;130:3111–23.
  • Lu DP, Christopher DA. Endoplasmic reticulum stress activates the expression of a sub-group of protein disulfide isomerase genes and AtbZIP60 modulates the response in Arabidopsis thaliana. Mol Genet Genomics 2008;280:199–210.
  • Atkin JD, Farg MA, Turner BJ, et al. Induction of the unfolded protein response in familial amyotrophic lateral sclerosis and association of protein-disulfide isomerase with superoxide dismutase 1. J Biol Chem 2006;281:30152–65.
  • Massignan T, Casoni F, Basso M, et al. Proteomic analysis of spinal cord of presymptomatic amyotrophic lateral sclerosis G93A SOD1 mouse. Biochem Biophys Res Commun 2007;353:719–25.
  • Walker AK, Farg MA, Bye CR, et al. Protein disulphide isomerase protects against protein aggregation and is S-nitrosylated in amyotrophic lateral sclerosis. Brain 2010;133:105–16.
  • 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.
  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 2011;7:603–15.
  • Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010;9:978–85.
  • Kaufman RJ. Orchestrating the unfolded protein response in health and disease. J Clin Invest 2002; 110:1389–98.
  • Kanekura K, Suzuki H, Aiso S, Matsuoka M. ER stress and unfolded protein response in amyotrophic lateral sclerosis. Mol Neurobiol 2009;39:81–9.
  • Matus S, Valenzuela V, Medinas DB, Hetz C. ER dysfunction and protein folding stress in ALS. Int J Cell Biol 2013;2013:674751. doi:10.1155/2013/674751
  • Tadic V, Prell T, Lautenschlaeger J, Grosskreutz J. The ER mitochondria calcium cycle and ER stress response as therapeutic targets in amyotrophic lateral sclerosis. Front Cell Neurosci 2014;8:147. doi:10.3389/fncel.2014.00147
  • Walker AK, Atkin JD. Stress signaling from the endoplasmic reticulum: a central player in the pathogenesis of amyotrophic lateral sclerosis. IUBMB Life 2011;63:754–63.
  • Ahtoniemi T, Jaronen M, Keksa-Goldsteine V, et al. Mutant SOD1 from spinal cord of G93A rats is destabilized and binds to inner mitochondrial membrane. Neurobiol Dis 2008;32:479–85.
  • Farg MA, Soo KY, Walker AK, et al. Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase. Neurobiol Aging 2012;33:2855–68.
  • Honjo Y, Kaneko S, Ito H, et al. Protein disulfide isomerase-immunopositive inclusions in patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12:444–50.
  • Ido A, Fukuyama H, Urushitani M. Protein misdirection inside and outside motor neurons in Amyotrophic Lateral Sclerosis (ALS): a possible clue for therapeutic strategies. Int J Mol Sci 2011;12:6980–703.
  • Turner BJ, Atkin JD. ER stress and UPR in familial amyotrophic lateral sclerosis. Curr Mol Med 2006;6:79–86.

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