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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn error of coenz...

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Autors principals: Brunetti, Dario, Dusi, Sabrina, Morbin, Michela, Uggetti, Andrea, Moda, Fabio, D'Amato, Ilaria, Giordano, Carla, d'Amati, Giulia, Cozzi, Anna, Levi, Sonia, Hayflick, Susan, Tiranti, Valeria
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510755/
https://ncbi.nlm.nih.gov/pubmed/22983956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds380
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