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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510755/ https://www.ncbi.nlm.nih.gov/pubmed/22983956 http://dx.doi.org/10.1093/hmg/dds380 |
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