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

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 α3 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 (α3+/D8...

Full description

Bibliographic Details
Main Authors: Toke Jost Isaksen, Lieke Kros, Natascia Vedovato, Thomas Hellesøe Holm, Ariel Vitenzon, David C Gadsby, Kamran Khodakhah, Karin Lykke-Hartmann
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5436892?pdf=render

Internet

http://europepmc.org/articles/PMC5436892?pdf=render

Similar Items