Article
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.
Neurobiology of disease - 1 Sept 2015
Santambrogio Paolo, Dusi Sabrina, Guaraldo Michela, Rotundo Luisa Ida, Broccoli Vania, Garavaglia Barbara, Tiranti Valeria, Levi Sonia
Abstract excerpt
Pantothenate kinase-associated neurodegeneration is an early onset autosomal recessive movement disorder caused by mutation of the pantothenate kinase-2 gene, which encodes a mitochondrial enzyme involved in coenzyme A synthesis. The disorder is characterised by high iron levels in the brain, although the pathological mechanism leading to this accumulation is unknown. To address this question, we tested primary...
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