Article
CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees.
Neurobiology of disease - 1 Aug 2002
Jonsson P Andreas, Bäckstrand Asa, Andersen Peter M, Jacobsson Johan, Parton Matthew, Shaw Chris, Swingler Robert, Shaw Pamela J, Robberecht Wim, Ludolph Albert C, Siddique Teepu, Skvortsova Veronica I, Marklund Stefan L
Abstract excerpt
Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to ALS. In most cases ALS is inherited as a dominant trait and there is marked reduction in CuZn-SOD activity in samples from the patients. The D90A mutation, however, mostly causes ALS as a recessive trait and shows near normal CuZn-SOD activity. A few familial and sporadic ALS cases heterozygous for the D90A mutation have also been found....
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