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Title: Distinct neurological disorders with ATP1A3 mutations
Authors: Heinzen, Erin L ×
Arzimanoglou, Alexis
Brashear, Allison
Clapcote, Steven J
Gurrieri, Fiorella
Goldstein, David B
Jóhannesson, Sigurður H
Mikati, Mohamad A
Neville, Brian
Nicole, Sophie
Ozelius, Laurie J
Poulsen, Hanne
Schyns, Tsveta
Sweadner, Kathleen J
van den Maagdenberg, Arn
Vilsen, Bente
ATP1A3 Working Group
Contributors: Freson, Kathleen
Issue Date: May-2014
Publisher: Lancet Pub. Group
Series Title: The Lancet Neurology vol:13 issue:5 pages:503-14
Article number: 10.1016/S1474-4422(14)70011-0
Abstract: Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
URI: 
ISSN: 1474-4422
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular and Vascular Biology
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