Mutation of SOD1 in ALS: a gain of a loss of function.

  title={Mutation of SOD1 in ALS: a gain of a loss of function.},
  author={Daniela Sau and Silvia De Biasi and Laura Vitellaro-Zuccarello and Patrizia Riso and Serena Guarnieri and Marisa Porrini and Silvia Simeoni and Valeria Crippa and Elisa Onesto and Isabella Palazzolo and Paola Rusmini and Elena Bolzoni and Caterina Bendotti and Angelo Poletti},
  journal={Human molecular genetics},
  volume={16 13},
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 expressing either wild-type (wt) human SOD1 or mutant G93A-SOD1, we found that wtSOD1 was… CONTINUE READING


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