ArticlePloS one2013
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 44 citations in OpenAlex.
- A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2017Trial
- Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.Neurobiology of disease · 2024Article
- Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.EMBO molecular medicine · 2024Article
- Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase:eNeuro · 2024Article
- Article
- NaBiomedicines · 2023Review
- Start Me Up: How Can Surrounding Gangliosides Affect Sodium-Potassium ATPase Activity and Steer towards Pathological Ion Imbalance in Neurons?Biomedicines · 2022Review
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Article
- Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.Journal of mother and child · 2020Article
- Fluoride Exposure Induces Inhibition of Sodium-and Potassium-Activated Adenosine Triphosphatase (NaInternational journal of environmental research and public health · 2019Review
- Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.PLoS genetics · 2017Article
- Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.Scientific reports · 2016Article
- Modeling mania in preclinical settings: A comprehensive review.Progress in neuro-psychopharmacology & biological psychiatry · 2016Review
- Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.Journal of neurogenetics · 2016Article
- Specific Inhibition of Phosphodiesterase-4B Results in Anxiolysis and Facilitates Memory Acquisition.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2016Article
- Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.Frontiers in physiology · 2016Review
- The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.Frontiers in physiology · 2016Review
- Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.PloS one · 2016Article
- Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.Neurogenetics · 2016Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature and can also have epilepsy, ataxia and learning disability. The Na(+),K(+)-ATPase has a well-known role in maintaining electrochemical gradients across cell membranes, but our understanding of how the mutations cause AHC is limited. Myshkin mutant mice carry an amino acid change (I810N) that affects the same position in Na(+),K(+)-ATPase α3 as I810S found in AHC. Using molecular modelling, we show that the Myshkin and AHC mutations display similarly severe structural impacts on Na(+),K(+)-ATPase α3, including upon the K(+) pore and predicted K(+) binding sites. Behavioural analysis of Myshkin mice revealed phenotypic abnormalities similar to symptoms of AHC, including motor dysfunction and cognitive impairment. 2-DG imaging of Myshkin mice identified compromised thalamocortical functioning that includes a deficit in frontal cortex functioning (hypofrontality), directly mirroring that reported in AHC, along with reduced thalamocortical functional connectivity. Our results thus provide validation for missense mutations in Na(+),K(+)-ATPase α3 as a cause of AHC, and highlight Myshkin mice as a starting point for the exploration of disease mechanisms and novel treatments in AHC.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.