superoxide dismutase 1
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L SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals. The molecules are byproducts of normal cell processes, and they must be broken down regularly to avoid damaging cells.
Normal function
L SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals. The molecules are byproducts of normal cell processes, and they must be broken down regularly to avoid damaging cells.
Conditions referring to this gene or chromosome
Altri nomi
ALS1
Cu/Zn superoxide dismutase
indophenoloxidase A
IPOA
SODC_HUMAN
superoxide dismutase 1, soluble
superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
superoxide dismutase, cystolic
superoxide dismutase-1, soluble
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Ulteriori letture e riferimenti
- superoxide dismutase 1; MedlinePlus, National Library of Medicine.
- Barber SC, Mead RJ, Shaw PJ. Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1051-67. doi: 10.1016/j.bbadis.2006.03.008. Epub 2006 Apr 4.
- Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Soraru G, Mostacciuolo ML. Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29.
- Rakhit R, Chakrabartty A. Structure, folding, and misfolding of Cu,Zn superoxide dismutase in amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1025-37. doi: 10.1016/j.bbadis.2006.05.004. Epub 2006 May 22.
- Shaw BF, Valentine JS. How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein? Trends Biochem Sci. 2007 Feb;32(2):78-85. doi: 10.1016/j.tibs.2006.12.005. Epub 2007 Jan 5.
- Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. 2001 Mar 23 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1450/
- Tsang CK, Liu Y, Thomas J, Zhang Y, Zheng XF. Superoxide dismutase 1 acts as a nuclear transcription factor to regulate oxidative stress resistance. Nat Commun. 2014 Mar 19;5:3446. doi: 10.1038/ncomms4446.
- Valentine JS, Doucette PA, Zittin Potter S. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis. Annu Rev Biochem. 2005;74:563-93. doi: 10.1146/annurev.biochem.72.121801.161647.
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