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The Rapid-onset Dystonia Parkinsonism Mutation D923N of the Na(+),K(+)-ATPase α3 Isoform Disrupts Na(+) Interaction at the Third Na(+) Site

Rapid-onset dystonia parkinsonism (RDP), a rare neurological disorder, is caused by mutation of the neuron-specific α3-isoform of Na(+),K(+)-ATPase. Here, we present the functional consequences of RDP mutation D923N. Relative to the wild type, the mutant exhibits a remarkable ∼200-fold reduction of...

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Detalhes bibliográficos
Main Authors: Einholm, Anja Pernille, Toustrup-Jensen, Mads S., Holm, Rikke, Andersen, Jens Peter, Vilsen, Bente
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2924038/
https://ncbi.nlm.nih.gov/pubmed/20576601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.123976
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