caa a22 4500 463208293 CHVBK 20180405153132.0 cr unu---uuuuu 170326e20071201xx s 000 0 eng 10.1007/s10863-007-9107-9 doi (NATIONALLICENCE)springer-10.1007/s10863-007-9107-9 Na,K-ATPase and the role of α isoforms in behavior [Elektronische Daten] [Jerry Lingrel, Michael Williams, Charles Vorhees, Amy Moseley] The Na,K-ATPase is composed of multiple isoforms and the isoform distribution varies with the tissue and during development. The α1 isoform for example, is the major isoform in the kidney and many other tissues, while the α2 isoform is the predominate one in skeletal muscle. All three isoforms are found in the brain although in adult rodent brain, the α3 isoform is located essentially in neurons while the α2 isoform is found in astrocytes and some limited neuronal populations. Interestingly the α4 isoform is found exclusively in the mid region of the sperm tail. The distribution of the isoforms of the Na,K-ATPase has been extensively studied in many tissues and during development. The examples cited above provide some indication to the diversity of Na,K-ATPase isoform expression. In order to understand the significance of this distribution, we have developed animals which lack the α1, α2, and α3 isoforms. It is anticipated that these studies will provide insight into the role that these isoforms play in driving various biological processes in specific tissues. Here we describe some of our studies which deal with the behavioral aspects of the α1, α2, and α3 deficient mice, particularly those that are haploinsufficient in one isoform i.e. lacking one functional gene for the α1, α2, or α3 isoforms. Such studies are important as two human diseases are associated with deficiency in the α2 and α3 isoforms. These are Familial Hemiplegic Migraine type 2 and Rapid-Onset Dystonia Parkinsonism, these diseases result from α2 and α3 isoform haploinsufficiency, respectively. We find that the haploinsufficiency of both α2 and α3 isoforms result in behavioral defects. Springer Science+Business Media, LLC, 2007 Na,K-ATPase nationallicence α isoforms nationallicence Rapid-Onset Dystonia Parkinsonism nationallicence Familial Hemiplegic migraine type 2 headache nationallicence Lingrel Jerry Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut Williams Michael Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut Vorhees Charles Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut Moseley Amy Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut Journal of Bioenergetics and Biomembranes Springer US; http://www.springer-ny.com 39/5-6(2007-12-01), 385-389 0145-479X 39:5-6<385 2007 39 10863 https://doi.org/10.1007/s10863-007-9107-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10863-007-9107-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lingrel Jerry Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Williams Michael Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Vorhees Charles Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Moseley Amy Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati, 3110 Medical Sciences Building, 231 Bethesda Avenue, P.O. Box 670524, 45267-0524, Cincinnati, OH, USA aut NATIONALLICENCE 773 0- Journal of Bioenergetics and Biomembranes Springer US; http://www.springer-ny.com 39/5-6(2007-12-01), 385-389 0145-479X 39:5-6<385 2007 39 10863 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer