title: Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
abstract: The physiologically essential oxidation of sulfite to sulfate is catalyzed by the molybdoheme enzyme, sulfite oxidase. Deficiencies of this enzyme in human patients lead to severe neurological symptoms, which usually result in death in early childhood. Up to date eleven missense mutations in the gene encoding sulfite oxidase have been identified from sulfite oxidase deficient patients. The structural characterization of these mutants is now possible after the chicken sulfite oxidase gene has been synthesized chemically and due to the high homology to the human enzyme it provides a good model of human sulfite oxidase. This review focuses on the possible effects of the sulfite oxidase deficiency causing mutations based on our new structures of recombinant chicken sulfite oxidase.
authors.affiliation: Department of Pharmacological Sciences, State University of New York at Stony Brook, Stony Brook, NY 11794-5115, USA.
authors.forename: Erkan
authors.initials: E
authors.lastname: Karakas
authors.forename: Caroline
authors.initials: C
authors.lastname: Kisker
mesh_terms: D000818:Animals; D001665:Binding Sites; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense / Q000235:genetics*; D011487:Protein Conformation; D050876:Sulfite Oxidase / Q000737:chemistry* / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*
chemical_list: D050876:Sulfite Oxidase