title: Lessons from MPO deficiency about functionally important structural features.
abstract: Genetic abnormalities often serve as the catalyst to stimulate critical insights into normal biology. In many cases, examining such experiments of Nature explicates not only the abnormal but also serves to illustrate underlying normal principles. Within the context of myeloperoxidase biosynthesis, we have examined the impact of specific missense mutations that cause inherited myeloperoxidase deficiency. Such studies have provided novel insights not otherwise possible. We have described three such mutations and are completing the analysis of a fourth.
authors.affiliation: Inflammation Program and Department of Medicine, University of Iowa, Veterans Administration Medical Center, Iowa, USA. william-nauseef@uiowa.edu
authors.forename: William M
authors.initials: WM
authors.lastname: Nauseef
mesh_terms: D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D009504:Neutrophils / Q000276:immunology*; D009195:Peroxidase / Q000172:deficiency* / Q000235:genetics
chemical_list: D009195:Peroxidase