Article
ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
Journal of molecular biology - 24 Jun 2011
Ip Philbert, Mulligan Vikram Khipple, Chakrabartty Avijit
Abstract excerpt
Point mutations scattered throughout the sequence of Cu,Zn superoxide dismutase (SOD1) cause a subset of amyotrophic lateral sclerosis (ALS) cases. SOD1 is a homodimer in which each subunit binds one copper atom and one zinc atom. Inclusions containing misfolded SOD1 are seen in motor neurons of SOD1-associated ALS cases. The mechanism by which these diverse mutations cause misfolding and converge on the same...
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