title: Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis.
abstract: We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). The enzymatic activity of mutated SOD-1 measured in erythrocyte lysate was 70% of control. This heterozygote mutation, which is associated with the late onset of the disease, is located in the active site of the enzyme.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. abn2@columbia.edu
authors.forename: A
authors.initials: A
authors.lastname: Naini
authors.forename: O
authors.initials: O
authors.lastname: Musumeci
authors.forename: L
authors.initials: L
authors.lastname: Hayes
authors.forename: F
authors.initials: F
authors.lastname: Pallotti
authors.forename: M
authors.initials: M
authors.lastname: Del Bene
authors.forename: H
authors.initials: H
authors.lastname: Mitsumoto
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D003600:Cytosol / Q000201:enzymology; D004247:DNA / Q000235:genetics; D004912:Erythrocytes / Q000378:metabolism; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D012016:Reference Values; D013482:Superoxide Dismutase / Q000097:blood / Q000235:genetics*
chemical_list: D004247:DNA; D013482:Superoxide Dismutase