title: [Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease].
abstract: CACH/VWM (childhood ataxia with central nervous system hypomyelination/vanishing white matter) disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B (eIF2B), but its etiology is poorly understood. Here, we attempt to provide an explanation for the pathogenic mechanism of this disease, based on the crystal structure of eIF2B.
authors.affiliation: RIKEN Center for Life Science Technologies.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kashiwagi
authors.forename: Takuhiro
authors.initials: T
authors.lastname: Ito
authors.forename: Shigeyuki
authors.initials: S
authors.lastname: Yokoyama
mesh_terms: D020717:Eukaryotic Initiation Factor-2B / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics / Q000378:metabolism; D008958:Models, Molecular; D009154:Mutation; D020836:Protein Structure, Quaternary; D066127:White Matter / Q000737:chemistry*
chemical_list: D020717:Eukaryotic Initiation Factor-2B