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

Abstract:

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+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pgen.1006763

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Department:
Corpus Christi College
Role:
Author
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Funding agency for:
Isaksen, TJ
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Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genetics Journal website
Volume:
13
Issue:
5
Pages:
e1006763
Publication date:
2017-05-04
Acceptance date:
2017-04-17
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
Pubs id:
pubs:692287
URN:
uri:1918a537-4c29-405b-ab76-cba33f420bb8
UUID:
uuid:1918a537-4c29-405b-ab76-cba33f420bb8
Local pid:
pubs:692287

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