Article
Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.
Annals of the New York Academy of Sciences - 1 Mar 2004
Johnson Monique A, Kuo Yien Ming, Westaway Shawn K, Parker Susan M, Ching Katherine H L, Gitschier Jane, Hayflick Susan J
Abstract excerpt
Mutations in the pantothenate kinase 2 gene (PANK2) lead to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). This neurodegenerative disorder is characterized by iron accumulation in the basal ganglia. Pantothenate kinase is the first enzyme in the biosynthesis of coenzyme A from pantothenate (vitamin B(5)). PANK2, one of four human pantothenate kinase genes, is...
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