Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation. PANK2 encodes the mitochondrial enzyme pantothenate kinase type 2,...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Brunetti, Dario, Dusi, Sabrina, Giordano, Carla, Lamperti, Costanza, Morbin, Michela, Fugnanesi, Valeria, Marchet, Silvia, Fagiolari, Gigliola, Sibon, Ody, Moggio, Maurizio, d’Amati, Giulia, Tiranti, Valeria
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2014
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3891449/
https://ncbi.nlm.nih.gov/pubmed/24316510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt325
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