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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...

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Detalles Bibliográficos
Autores principales: Santambrogio, Paolo, Ripamonti, Maddalena, Cozzi, Anna, Raimondi, Marzia, Cavestro, Chiara, Di Meo, Ivano, Rubio, Alicia, Taverna, Stefano, Tiranti, Valeria, Levi, Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
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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