Article
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brain : a journal of neurology - 1 Jan 2014
Brunetti Dario, Dusi Sabrina, Giordano Carla, Lamperti Costanza, Morbin Michela, Fugnanesi Valeria, Marchet Silvia, Fagiolari Gigliola, Sibon Ody, Moggio Maurizio, d'Amati Giulia, Tiranti Valeria
Abstract excerpt
Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2, responsible for the phosphorylation of pantothenate or vitamin B5 in the biosynthesis of co-enzyme A. A Pank2...
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