Amyotrophic lateral sclerosis, superoxide

Familial amyotrophic lateral sclerosis, superoxide dismutase and, 45 148 Fano resonance, 35 349-350 Fast atom bombardment mass spectrometry, heteronuclear gold cluster compounds, 39 340-342... 

Familial amyotrophic lateral sclerosis Superoxide dismutase (SODl) TDP-43 Local... 

Amyotrophic lateral sclerosis Superoxide dismutase Misfolding... 

Interest in superoxide dismutase has increased in recent years with the discovery that a mutation in the gene coding for SOD is linked to certain types of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig s disease. Exactly how mutant forms of SOD are involved in ALS is a subject of intense research. 

Lou Gehrig s disease (amyotrophic lateral sclerosis ALS) displays motor neuron deposits of hyperphosphorylated neurofilament subunits in the sporadic disease. Familial ALS, some 20% of all cases of ALS, involves dominant superoxide dismutase SOD1 mutants that can form (3-barrel aggregates [49-51]. 

Stieber, A., Gonatas, J. O., Moore, J. S. et al. Disruption of the structure of the Golgi apparatus and the function of the secretory pathway by mutants G93A and G85R of Cu, Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis. /. Neurol. Sci. 219 45-53, 2004. 

Rosen, D. R., Siddique, T., Patterson, D. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362 59-62, 1993. 

Andersen,P.M.,Nilsson,P.,Ala-Hurula,V. et al.Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat. Genet. 10 61-66,1995. 

Borchelt, D. R., Lee, M. K., Slunt, H. H. et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc. Natl Acad. Sci. U.S.A. 91 8292-8296,1994. 

Bowling, A. C., Barkowski, E. E., McKenna-Yasek, D. et al. Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis. /. Neurochem. 64 2366-2369, 1995. 

Turner, B. J., Lopes, E. C. and Cheema, S. S. Neuromuscular accumulation of mutant superoxide dismutase 1 aggregates in a transgenic mouse model of familial amyotrophic lateral sclerosis. Neurosci. Lett. 350 132-136, 2003. 

Bruijn, L. I., Beal, M. F., Becher, M. W. et al. Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superoxide dismutase 1 mutant. Proc. Natl Acad. Sci. U.S.A. 94 7606-7611,1997. 

Pasinelli, P., Borchelt, D. R., Houseweart, M. K., Cleveland, D. W. and Brown, R. H. Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase. Neurobiology 95 15763-15768,1998. 

Potter, S.Z. and Valentine, J.S. (2003) The perplexing role of copper-zinc superoxide dismutase in amyotrophic lateral sclerosis (Lou Gehrig s disease), J. Biol. Inorg. Chem., 8, 373-380. 

Johnston, J. A., et al.. 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, 2000, 97(23), 12571-6. 

Frontotemporal dementia involves an early and primary degenerative process of frontal and/or temporal cortex. Several disorders fall under this rubric, such as Pick s disease and the dementia associated with amyotrophic lateral sclerosis (ALS). ALS is a degenerative disease of upper motor neurons that is sometimes accompanied by a frontal lobe dementia (Vercelletto et al. 1999 Abe et al. 1997). ALS has been associated with mutations in the free radical scavenging enzyme superoxide dismutase 1 (Price et al. 1997). Pick s disease is associated histologically with a loss of neurons and cytoplasmic Pick bodies in surviving neurons. 

R., Morrison, J. H. and Gordon, J. W. (1995) Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 92, 689-693. 

Valentine J. S. Doucette P. A. Potter S. Z. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis. Ann. Rev. Biochem. 2005, 74, 563-593. 

Morrison, B. M., and Morrison, J. H. (1999). Amyotrophic lateral sclerosis associated with mutations in superoxide dismutase A putative mechanism of degeneration. Brain Res. Rev. 29, 121—135. 

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