Article
Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.
Cell death & disease - 25 Feb 2022
Santambrogio Paolo, Ripamonti Maddalena, Cozzi Anna, Raimondi Marzia, Cavestro Chiara, Di Meo Ivano, Rubio Alicia, Taverna Stefano, Tiranti Valeria, Levi Sonia
Abstract excerpt
Neurodegeneration associated with defective pantothenate kinase-2 (PKAN) is an early-onset monogenic autosomal-recessive disorder. The hallmark of the disease is the massive accumulation of iron in the globus pallidus brain region of patients. PKAN is caused by mutations in the PANK2 gene encoding the mitochondrial enzyme pantothenate kinase-2, whose function is to catalyze the first reaction of the CoA...
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