Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump

Mutations in the neuron-specific α(3) isoform of the Na(+)/K(+)-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (...

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Veröffentlicht in:PLoS Genet
Hauptverfasser: Isaksen, Toke Jost, Kros, Lieke, Vedovato, Natascia, Holm, Thomas Hellesøe, Vitenzon, Ariel, Gadsby, David C., Khodakhah, Kamran, Lykke-Hartmann, Karin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2017
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5436892/
https://ncbi.nlm.nih.gov/pubmed/28472154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006763
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