- Rosen, D. R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993).
Article CAS PubMed Google Scholar
- Deng, H. X. et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 261, 1047–1051 (1993).
Article CAS PubMed Google Scholar
- Wong, P. C. et al. An adverse property of a familial ALS–linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14, 1105–1116 (1995).
Article CAS PubMed Google Scholar
- Gurney, M. E. et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 264, 1772–1775 (1994).
Article CAS PubMed Google Scholar
- Ripps, M. E., Huntley, G. W., Hof, P. R., Morrison, J. H. & Gordon, J. W. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. 92, 689–693 (1995).
Article CAS PubMed PubMed Central Google Scholar
- Bruijn, L. I. et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 18, 327–338 (1997).
Article CAS PubMed Google Scholar
- Julien, J.-P. Amyotrophic lateral sclerosis. Unfolding the toxicity of the misfolded. Cell 104, 581–591 (2001).
Article CAS PubMed Google Scholar
- Cleveland, D. W. & Rothstein, J. D. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat. Rev. Neurosci. 2, 806–819 (2001).
Article CAS PubMed Google Scholar
- Estevez, A. G. et al. Induction of nitric oxide–dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase. Science 286, 2498–2500 (1999).
Article CAS PubMed Google Scholar
- Wiedau-Pazos, M. et al. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 271, 515–518 (1996).
Article CAS PubMed Google Scholar
- Beckman, J. S., Carson, M., Smith, C. D. & Koppenol, W. H. ALS, SOD and peroxynitrite. Nature 364, 584 (1993).
- Rae, T. D., Schmidt, P. J., Pufahl, R. A., Culotta, V. C. & O'Halloran, T. V. Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase. Science 284, 805–808 (1999).
Article CAS PubMed Google Scholar
- Kuo, Y. M., Zhou, B., Cosco, D. & Gitschier, J. The copper transporter CTR1 provides an essential function in mammalian embryonic development. Proc. Natl. Acad. Sci. USA 98, 6836–6841 (2001).
Article CAS PubMed PubMed Central Google Scholar
- Lee, J., Prohaska, J. R. & Thiele, D. J. Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development. Proc. Natl. Acad. Sci. USA 98, 6842–6847 (2001).
Article CAS PubMed PubMed Central Google Scholar
- Culotta, V. C. et al. Intracellular pathways of copper trafficking in yeast and humans. Adv. Exp. Med. Biol. 448, 247–254 (1999).
Article CAS PubMed Google Scholar
- Culotta, V. C. et al. The copper chaperone for superoxide dismutase. J. Biol. Chem. 272, 23469–23472 (1997).
Article CAS PubMed Google Scholar
- Torres, A. S., Petri, V., Rae, T. D. & O'Halloran, T. V. Copper-stabilized heterodimer of the yCCS metallochaperone and its target superoxide dismutase. J. Biol. Chem. 276, 38410–38416 (2001).
Article CAS PubMed Google Scholar
- Wong, P. C. et al. Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase. Proc. Natl. Acad. Sci. USA 97, 2886–2891 (2000).
Article CAS PubMed PubMed Central Google Scholar
- Crapo, J., McCord, J. M. & Fridovich, I. Preparation and assay of superoxide dismutases. Methods Enzymol. 53, 382–393 (1978).
Article CAS PubMed Google Scholar
- Reaume, A. G. et al. Motor neurons in Cu/Zn superoxide dismutase–deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat. Genetics 13, 43–47 (1996).
Article CAS PubMed Google Scholar
- Mouton, P. R. et al. Cognitive decline strongly correlates with cortical atrophy in Alzheimer's dementia. Neurobiol. Aging 19, 371–377 (1998).
Article CAS PubMed Google Scholar
- Lyons, W. E. et al. Neuronal regeneration enhances the expression of the immunophilin FKBP-12. J. Neurosci. 15, 2985–2994 (1995).
Article CAS PubMed PubMed Central Google Scholar
- Williamson, T. L. et al. Toxicity of ALS-linked SOD1 mutants. Science 288, 399 (2000).
Article CAS PubMed Google Scholar
- Borchelt, D. R. et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc. Natl. Acad. Sci. USA 91, 8292–8296 (1994).
Article CAS PubMed PubMed Central Google Scholar
- Corson, L. B, Strain, J. J., Culotta, V. C. & Cleveland, D. W. Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis–linked superoxide dismutase mutants. Proc. Natl. Acad. Sci. USA 95, 6361–6366 (1998).
Article CAS PubMed PubMed Central Google Scholar
- Crow, J. P. et al. Superoxide dismutase catalyzes nitration of tyrosines by peroxynitrite in the rod and head domains of neurofilament-L. J. Neurochem. 69, 1945–1953 (1997).
Article CAS PubMed Google Scholar
- Doroudchi, M. M., Minotti, S., Figlewicz, D. A. & Durham, H. D. Nitrotyrosination contributes minimally to toxicity of mutant SOD1 associated with ALS. Neuroreport 12, 1239–1243 (2001).
Article CAS PubMed Google Scholar
- Facchinetti, F. et al. Lack of involvement of neuronal nitric oxide synthase in the pathogenesis of a transgenic mouse model of familial amyotrophic lateral sclerosis. Neuroscience 90, 1483–1492 (1999).
Article CAS PubMed Google Scholar
- Yim, M. B. et al. A gain-of-function of an amyotrophic lateral sclerosis–associated Cu,Zn-superoxide dismutase mutant: an enhancement of free radical formation due to a decrease in Km for hydrogen peroxide. Proc. Natl. Acad. Sci. USA 93, 5709–5714 (1996).
Article CAS PubMed PubMed Central Google Scholar
- Yim, H. S. et al. A familial amyotrophic lateral sclerosis–associated A4V Cu,Zn-superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value. J. Biol. Chem. 272, 8861–8863 (1997).
Article CAS PubMed Google Scholar
- Singh, R. J. et al. Reexamination of the mechanism of hydroxyl radical adducts formed from the reaction between familial amyotrophic lateral sclerosis–associated Cu,Zn superoxide dismutase mutants and H2O2 . Proc. Natl. Acad. Sci. USA 95, 6675–6680 (1998).
Article CAS PubMed PubMed Central Google Scholar
- Sankarapandi, S. & Zweier, J. L. Evidence against the generation of free hydroxyl radicals from the interaction of copper, zinc-superoxide dismutase and hydrogen peroxide. J. Biol. Chem. 274, 34576–34583 (1999).
Article CAS PubMed Google Scholar
- Goto, J. J. et al. Loss of in vitro metal ion binding specificity in mutant copper–zinc superoxide dismutases associated with familial amyotrophic lateral sclerosis. J. Biol. Chem. 275, 1007–1014 (2000).
Article CAS PubMed Google Scholar
- Liu, H. et al. Copper2+ binding to the surface residue cysteine 111 of His46Arg human copper–zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant. Biochemistry 39, 8125–8132 (2000).
Article CAS PubMed Google Scholar
- Martin, L. J. Neuronal death in amyotrophic lateral sclerosis is apoptosis: possible contribution of a programmed cell death mechanism. J. Neuropathol. Exp. Neurol. 58, 459–471 (1999).
Article CAS PubMed Google Scholar
- Li, M. et al. Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model. Science 288, 335–339 (2000).
Article CAS PubMed Google Scholar
- Pasinelli, P., Houseweart, M. K., Brown, R. H. Jr. & Cleveland, D. W. Caspase-1 and -3 are sequentially activated in motor neuron death in Cu,Zn superoxide dismutase–mediated familial amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA 97, 13901–13906 (2000).
Article CAS PubMed PubMed Central Google Scholar
- Bruijn, L. I. et al. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 281, 1851–1854 (1998).
Article CAS PubMed Google Scholar
- Johnston, J. A, Dalton, M. J., Gurney, M. E. & Kopito, R. R. Formation of high molecular weight complexes of mutant Cu,Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA 97, 12571–12576 (2000).
Article CAS PubMed PubMed Central Google Scholar
- Beaulieu, J. M., Jacomy, H. & Julien, J. P. Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit. J. Neurosci. 20, 5321–5328 (2000).
Article CAS PubMed PubMed Central Google Scholar
- Sunderman, F. W. Jr. & Nomoto, S. Measurement of human serum ceruloplasmin by its _p_-phenylenediamine oxidase activity. Clin. Chem. 11, 903–910 (1970).
Google Scholar
- Prohaska, J. R & Bailey, W. R. Persistent regional changes in brain copper, cuproenzymes and catecholamines following perinatal copper deficiency in mice. J. Nutr. 123, 1226–1234 (1993).
Article CAS PubMed Google Scholar