Article
Mutation of SOD1 in ALS: a gain of a loss of function.
Human molecular genetics - 1 Jul 2007
Sau Daniela, De Biasi Silvia, Vitellaro-Zuccarello Laura, Riso Patrizia, Guarnieri Serena, Porrini Marisa, Simeoni Silvia, Crippa Valeria, Onesto Elisa, Palazzolo Isabella, Rusmini Paola, Bolzoni Elena, Bendotti Caterina, Poletti Angelo
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss. Some familial cases (fALS) are linked to mutations of superoxide dismutase type-1 (SOD1), an antioxidant enzyme whose activity is preserved in most mutant forms. Owing to the similarities in sporadic and fALS forms, mutant SOD1 animal and cellular models are a useful tool to study the disease. In transgenic mice...
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