Sandbox Reserved 164: Difference between revisions
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<Structure load='3ECU' size='500' frame='true' align='right' caption='Crystal Structure of SOD 1 protein, PDB ID: 3ECU' scene='Insert optional scene name here' /> | <Structure load='3ECU' size='500' frame='true' align='right' caption='Crystal Structure of SOD 1 protein, PDB ID: 3ECU' scene='Insert optional scene name here' /> | ||
== Superoxide Dismutase 1 (SOD 1) == | == Superoxide Dismutase 1 (SOD 1) == | ||
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This protein is coded for by the SOD 1 gene located on chromosome 21 at position 21q22.1 from base pairs 33,031,934 to 33,041,243. <ref name="Sod1">SOD 1. Genetics Home Reference. U.S. National Library of Medicine; 2010</ref> | This protein is coded for by the SOD 1 gene located on chromosome 21 at position 21q22.1 from base pairs 33,031,934 to 33,041,243. <ref name="Sod1">SOD 1. Genetics Home Reference. U.S. National Library of Medicine; 2010</ref> | ||
== Structure == | == Structure == | ||
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== ALS == | == ALS == | ||
Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis. <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref> | Mutations to the SOD 1 protein have been linked to the development of familial amyotrophic lateral sclerosis. <ref name="Al-Chalabi">Al-Chalabi A, Leigh PN (August 2000). "Recent advances in amyotrophic lateral sclerosis". Curr. Opin. Neurol. 13 (4): 397–405. PMID 10970056.</ref> These mutations cause a conformational change that leads to motor neuron death through toxic radical build up, promotion of apoptosis, aggregate formation of misfolded proteins, or over stimulation of the cells.<ref name="Sod1">SOD 1. Genetics Home Reference. U.S. National Library of Medicine; 2010</ref> | ||
== References == | == References == | ||
<references /> | <references /> | ||
