Article
Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.
Neuroscience letters - 11 Aug 2000
Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro A M, Liguri G, St George-Hyslop P H, Sorbi S
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord. Approximately 20% of the inherited autosomal dominant cases are due to mutations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a cytosolic homodimeric enzyme that catalyzes the dismutation of toxic superoxide anion. We investigated the presence...
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