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Issue 21, 2005
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Structural analysis of missense mutations causing isolated sulfite oxidase deficiency

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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.

Graphical abstract: Structural analysis of missense mutations causing isolated sulfite oxidase deficiency

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Publication details

The article was received on 25 Apr 2005, accepted on 16 Jun 2005 and first published on 26 Sep 2005


Article type: Perspective
DOI: 10.1039/B505789M
Citation: Dalton Trans., 2005, 3459-3463
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    Structural analysis of missense mutations causing isolated sulfite oxidase deficiency

    E. Karakas and C. Kisker, Dalton Trans., 2005, 3459
    DOI: 10.1039/B505789M

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