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Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype
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 t...
Autores principales: | Santambrogio, Paolo, Ripamonti, Maddalena, Cozzi, Anna, Raimondi, Marzia, Cavestro, Chiara, Di Meo, Ivano, Rubio, Alicia, Taverna, Stefano, Tiranti, Valeria, Levi, Sonia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8881507/ https://www.ncbi.nlm.nih.gov/pubmed/35217637 http://dx.doi.org/10.1038/s41419-022-04626-x |
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