title: [Familial amyotrophic lateral sclerosis associated with mutant Cu/Zn superoxide dismutase as a conformational disease].
abstract: To investigate the molecular mechanism of mutant Cu/Zn superoxide dismutase (SOD) associated with familial amyotrophic lateral sclerosis (FALS), mutant (A1a4Thr, Gly85Arg, Gly93Ala, and two base-pair deletion in the 126th codon), as well as wild-type (wt), Cu/Zn SODs were expressed in COS7 cells. The formation of granular cytoplasmic aggregates accompanied by collapse of the cytoplasm was observed in cells expressing mutant Cu/Zn SODs, but not in cells expressing mutant Cu/Zn SODs. The aggregates contained ribosome-like particles and endoplasmic reticulum. These results suggest the possibility that mutant Cu/Zn SODs promote the formation of aggregates which are toxic to cells.
authors.affiliation: Department of Neurology, Niigata University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Koide
authors.forename: S
authors.initials: S
authors.lastname: Igarashi
authors.forename: K
authors.initials: K
authors.lastname: Kikugawa
authors.forename: R
authors.initials: R
authors.lastname: Nakano
authors.forename: T
authors.initials: T
authors.lastname: Inuzuka
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase