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,...

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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2014
Konular:
Original Articles
Online Erişim: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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