{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:13:52Z","timestamp":1792059232900,"version":"4.4.0"},"reference-count":75,"publisher":"Springer Science and Business Media LLC","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1007\/s00439-009-0673-2","type":"journal-article","created":{"date-parts":[[2009,5,11]],"date-time":"2009-05-11T09:37:14Z","timestamp":1242034634000},"page":"431-447","source":"Crossref","is-referenced-by-count":39,"title":["Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity"],"prefix":"10.1007","volume":"126","author":[{"given":"Lesley J.","family":"Ashmore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacy L.","family":"Hrizo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M.","family":"Paul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne A.","family":"Van Voorhies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg J.","family":"Beitel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Palladino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,5,12]]},"reference":[{"key":"673_CR1","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1212\/01.wnl.0000187072.71931.c0","volume":"65","author":"A Ambrosini","year":"2005","unstructured":"Ambrosini A, D\u2019Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F (2005) Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology 65:1826\u20131828","journal-title":"Neurology"},{"key":"673_CR2","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1371\/journal.pgen.0030129","volume":"3","author":"A Antebi","year":"2007","unstructured":"Antebi A (2007) Genetics of aging in Caenorhabditis elegans. PLoS Genet 3:1565\u20131571","journal-title":"PLoS Genet"},{"key":"673_CR3","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1097\/00004647-200110000-00001","volume":"21","author":"D Attwell","year":"2001","unstructured":"Attwell D, Laughlin SB (2001) An energy budget for signaling in the grey matter of the brain. J Cereb Blood Flow Metab 21:1133\u20131145","journal-title":"J Cereb Blood Flow Metab"},{"key":"673_CR4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0166-2236(93)90117-5","volume":"16","author":"MF Beal","year":"1993","unstructured":"Beal MF, Hyman BT, Koroshetz W (1993) Do defects in mitochondrial energy metabolism underlie the pathology of neurodegenerative diseases? Trends Neurosci 16:125\u2013131","journal-title":"Trends Neurosci"},{"key":"673_CR5","first-page":"F633","volume":"275","author":"G Blanco","year":"1998","unstructured":"Blanco G, Mercer RW (1998) Isozymes of the Na-K-ATPase: heterogeneity in structure, diversity in function. Am J Physiol 275:F633\u2013F650","journal-title":"Am J Physiol"},{"key":"673_CR6","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1093\/brain\/awl340","volume":"130","author":"A Brashear","year":"2007","unstructured":"Brashear A, Dobyns WB, De Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (2007) The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 130:828\u2013835","journal-title":"Brain"},{"key":"673_CR7","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1083\/jcb.200712022","volume":"182","author":"T Cai","year":"2008","unstructured":"Cai T, Wang H, Chen Y, Liu L, Gunning WT, Quintas LE, Xie ZJ (2008) Regulation of caveolin-1 membrane trafficking by the Na\/K-ATPase. J Cell Biol 182:1153\u20131169","journal-title":"J Cell Biol"},{"key":"673_CR8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.neuron.2004.07.002","volume":"43","author":"SC Cannon","year":"2004","unstructured":"Cannon SC (2004) Paying the price at the pump: dystonia from mutations in a Na+\/K+-ATPase. Neuron 43:153\u2013154","journal-title":"Neuron"},{"key":"673_CR9","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1399-0004.2007.00918.x","volume":"73","author":"MJ Castro","year":"2008","unstructured":"Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM (2008) Two novel functional mutations in the Na+, K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clin Genet 73:37\u201343","journal-title":"Clin Genet"},{"key":"673_CR10","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1523\/JNEUROSCI.4162-05.2006","volume":"26","author":"AM Celotto","year":"2006","unstructured":"Celotto AM, Frank AC, McGrath SW, Fergestad T, Van Voorhies WA, Buttle KF, Mannella CA, Palladino MJ (2006a) Mitochondrial encephalomyopathy in Drosophila. J Neurosci 26:810\u2013820","journal-title":"J Neurosci"},{"key":"673_CR11","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1534\/genetics.106.063206","volume":"174","author":"AM Celotto","year":"2006","unstructured":"Celotto AM, Frank AC, Seigle JL, Palladino MJ (2006b) Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy. Genetics 174:1237\u20131246","journal-title":"Genetics"},{"key":"673_CR12","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1152\/physrev.00001.2004","volume":"84","author":"M Cereijido","year":"2004","unstructured":"Cereijido M, Contreras RG, Shoshani L (2004) Cell adhesion, polarity, and epithelia in the dawn of metazoans. Physiol Rev 84:1229\u20131262","journal-title":"Physiol Rev"},{"key":"673_CR13","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.bbamem.2007.09.001","volume":"1778","author":"M Cereijido","year":"2008","unstructured":"Cereijido M, Contreras RG, Shoshani L, Flores-Benitez D, Larre I (2008) Tight junction and polarity interaction in the transporting epithelial phenotype. Biochim Biophys Acta 1778:770\u2013793","journal-title":"Biochim Biophys Acta"},{"key":"673_CR14","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","volume":"43","author":"P Carvalho Aguiar de","year":"2004","unstructured":"de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ (2004) Mutations in the Na+\/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43:169\u2013175","journal-title":"Neuron"},{"key":"673_CR15","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ng1081","volume":"33","author":"M Fusco De","year":"2003","unstructured":"De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G (2003) Haploinsufficiency of ATP1A2 encoding the Na+\/K+pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33:192\u2013196","journal-title":"Nat Genet"},{"key":"673_CR16","first-page":"331","volume":"3","author":"RB Dean","year":"1941","unstructured":"Dean RB (1941) Theories of electrolyte equilibrium in muscle. Biol Symp 3:331\u2013348","journal-title":"Biol Symp"},{"key":"673_CR17","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1242\/jeb.197.1.215","volume":"197","author":"RS Edgecomb","year":"1994","unstructured":"Edgecomb RS, Harth CE, Schneiderman AM (1994) Regulation of feeding behavior in adult Drosophila melanogaster varies with feeding regime and nutritional state. J Exp Biol 197:215\u2013235","journal-title":"J Exp Biol"},{"key":"673_CR18","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1085\/jgp.95.4.591","volume":"95","author":"M Erecinska","year":"1990","unstructured":"Erecinska M, Dagani F (1990) Relationships between the neuronal sodium\/potassium pump and energy metabolism. Effects of K+, Na+, and adenosine triphosphate in isolated brain synaptosomes. J Gen Physiol 95:591\u2013616","journal-title":"J Gen Physiol"},{"key":"673_CR19","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1534\/genetics.106.057463","volume":"173","author":"T Fergestad","year":"2006","unstructured":"Fergestad T, Bostwick B, Ganetzky B (2006) Metabolic disruption in Drosophila bang-sensitive seizure mutants. Genetics 173:1357\u20131364","journal-title":"Genetics"},{"key":"673_CR20","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1534\/genetics.107.082115","volume":"178","author":"T Fergestad","year":"2008","unstructured":"Fergestad T, Olson L, Patel KP, Miller R, Palladino MJ, Ganetzky B (2008) Neuropathology in Drosophila mutants with increased seizure susceptibility. Genetics 178:947\u2013956","journal-title":"Genetics"},{"key":"673_CR21","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1526-4610.2007.00848.x","volume":"48","author":"DM Fernandez","year":"2008","unstructured":"Fernandez DM, Hand CK, Sweeney BJ, Parfrey NA (2008) A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred. Headache 48:101\u2013108","journal-title":"Headache"},{"key":"673_CR22","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.jns.2008.06.006","volume":"273","author":"A Gallanti","year":"2008","unstructured":"Gallanti A, Tonelli A, Cardin V, Bussone G, Bresolin N, Bassi MT (2008) A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. J Neurol Sci 273:123\u2013126","journal-title":"J Neurol Sci"},{"key":"673_CR23","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1083\/jcb.200212054","volume":"161","author":"JL Genova","year":"2003","unstructured":"Genova JL, Fehon RG (2003) Neuroglian, Gliotactin, and the Na+\/K+ATPase are essential for septate junction function in Drosophila. J Cell Biol 161:979\u2013989","journal-title":"J Cell Biol"},{"key":"673_CR24","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.tibs.2007.02.007","volume":"32","author":"ME Giannakou","year":"2007","unstructured":"Giannakou ME, Partridge L (2007) Role of insulin-like signalling in Drosophila lifespan. Trends Biochem Sci 32:180\u2013188","journal-title":"Trends Biochem Sci"},{"key":"673_CR25","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s11916-005-0065-9","volume":"9","author":"J Haan","year":"2005","unstructured":"Haan J, Kors EE, Vanmolkot KR, van den Maagdenberg AM, Frants RR, Ferrari MD (2005) Migraine genetics: an update. Curr Pain Headache Rep 9:213\u2013220","journal-title":"Curr Pain Headache Rep"},{"key":"673_CR26","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1101\/gad.1308205","volume":"19","author":"B Hamilton","year":"2005","unstructured":"Hamilton B, Dong Y, Shindo M, Liu W, Odell I, Ruvkun G, Lee SS (2005) A systematic RNAi screen for longevity genes in C. elegans. Genes Dev 19:1544\u20131555","journal-title":"Genes Dev"},{"key":"673_CR27","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.cell.2006.01.052","volume":"125","author":"LG Hilgenberg","year":"2006","unstructured":"Hilgenberg LG, Su H, Gu H, O\u2019Dowd DK, Smith MA (2006) Alpha3Na+\/K+-ATPase is a neuronal receptor for agrin. Cell 125:359\u2013369","journal-title":"Cell"},{"key":"673_CR28","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jnnp.2006.103267","volume":"78","author":"JC Jen","year":"2007","unstructured":"Jen JC, Klein A, Boltshauser E, Cartwright MS, Roach ES, Mamsa H, Baloh RW (2007) Prolonged hemiplegic episodes in children due to mutations in ATP1A2. J Neurol Neurosurg Psychiatry 78:523\u2013526","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"673_CR29","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1212\/01.WNL.0000127310.11526.FD","volume":"62","author":"K Jurkat-Rott","year":"2004","unstructured":"Jurkat-Rott K, Freilinger T, Dreier JP, Herzog J, Gobel H, Petzold GC, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M (2004) Variability of familial hemiplegic migraine with novel A1A2 Na+\/K+-ATPase variants. Neurology 62:1857\u20131861","journal-title":"Neurology"},{"key":"673_CR30","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1212\/01.wnl.0000310431.41036.e0","volume":"70","author":"C Kamm","year":"2008","unstructured":"Kamm C, Fogel W, Wachter T, Schweitzer K, Berg D, Kruger R, Freudenstein D, Gasser T (2008) Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation. Neurology 70:1501\u20131503","journal-title":"Neurology"},{"key":"673_CR31","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s10048-004-0178-z","volume":"5","author":"MA Kaunisto","year":"2004","unstructured":"Kaunisto MA, Harno H, Vanmolkot KR, Gargus JJ, Sun G, Hamalainen E, Liukkonen E, Kallela M, van den Maagdenberg AM, Frants RR, Farkkila M, Palotie A, Wessman M (2004) A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics 5:141\u2013146","journal-title":"Neurogenetics"},{"key":"673_CR32","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.bbamem.2005.01.003","volume":"1669","author":"JB Koenderink","year":"2005","unstructured":"Koenderink JB, Zifarelli G, Qiu LY, Schwarz W, De Pont JJ, Bamberg E, Friedrich T (2005) Na, K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation. Biochim Biophys Acta 1669:61\u201368","journal-title":"Biochim Biophys Acta"},{"key":"673_CR33","doi-asserted-by":"crossref","first-page":"13091","DOI":"10.1073\/pnas.95.22.13091","volume":"95","author":"B Lakowski","year":"1998","unstructured":"Lakowski B, Hekimi S (1998) The genetics of caloric restriction in Caenorhabditis elegans. Proc Natl Acad Sci USA 95:13091\u201313096","journal-title":"Proc Natl Acad Sci USA"},{"key":"673_CR34","doi-asserted-by":"crossref","first-page":"164","DOI":"10.2144\/000112386","volume":"42","author":"T Le","year":"2007","unstructured":"Le T, Yu M, Williams B, Goel S, Paul SM, Beitel GJ (2007) CaSpeR5, a family of Drosophila transgenesis and shuttle vectors with improved multiple cloning sites. Biotechniques 42:164\u2013166","journal-title":"Biotechniques"},{"key":"673_CR35","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/j.1460-2075.1989.tb03364.x","volume":"8","author":"RM Lebovitz","year":"1989","unstructured":"Lebovitz RM, Takeyasu K, Fambrough DM (1989) Molecular characterization and expression of the (Na++K+)-ATPase alpha-subunit in Drosophila melanogaster. Embo J 8:193\u2013202","journal-title":"Embo J"},{"key":"673_CR36","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/0306-4522(93)90254-D","volume":"54","author":"GJ Lees","year":"1993","unstructured":"Lees GJ (1993) Contributory mechanisms in the causation of neurodegenerative disorders. Neuroscience 54:287\u2013322","journal-title":"Neuroscience"},{"key":"673_CR37","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1126\/science.1136610","volume":"315","author":"S Libert","year":"2007","unstructured":"Libert S, Zwiener J, Chu X, Vanvoorhies W, Roman G, Pletcher SD (2007) Regulation of Drosophila life span by olfaction and food-derived odors. Science 315:1133\u20131137","journal-title":"Science"},{"key":"673_CR38","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/j.1749-6632.1997.tb52251.x","volume":"834","author":"JB Lingrel","year":"1997","unstructured":"Lingrel JB, Arguello JM, Van Huysse J, Kuntzweiler TA (1997) Cation and cardiac glycoside binding sites of the Na, K-ATPase. Ann N Y Acad Sci 834:194\u2013206","journal-title":"Ann N Y Acad Sci"},{"key":"673_CR39","first-page":"721","volume":"13","author":"OD Lopina","year":"2000","unstructured":"Lopina OD (2000) Na+, K+-ATPase: structure, mechanism, and regulation. Membr Cell Biol 13:721\u2013744","journal-title":"Membr Cell Biol"},{"key":"673_CR40","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1023\/A:1005580332144","volume":"20","author":"A Mobasheri","year":"2000","unstructured":"Mobasheri A, Avila J, Cozar-Castellano I, Brownleader MD, Trevan M, Francis MJ, Lamb JF, Martin-Vasallo P (2000) Na+, K+-ATPase isozyme diversity; comparative biochemistry and physiological implications of novel functional interactions. Biosci Rep 20:51\u201391","journal-title":"Biosci Rep"},{"key":"673_CR75","doi-asserted-by":"crossref","unstructured":"Morth JP, Pedersen BP, Toustrup-Jensen MS, Sorensen TL, Petersen J, Andersen JP, Vilsen B, Nissen P (2007) Crystal structure of the sodium\u2010potassium pump. Nature 450:1043\u20131049","DOI":"10.1038\/nature06419"},{"key":"673_CR41","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0092-8674(00)00049-0","volume":"102","author":"MJ Palladino","year":"2000","unstructured":"Palladino MJ, Keegan LP, O\u2019Connell MA, Reenan RA (2000) A-to-I pre-mRNA editing in Drosophila is primarily involved in adult nervous system function and integrity. Cell 102:437\u2013449","journal-title":"Cell"},{"key":"673_CR42","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1093\/genetics\/161.3.1197","volume":"161","author":"MJ Palladino","year":"2002","unstructured":"Palladino MJ, Hadley TJ, Ganetzky B (2002) Temperature-sensitive paralytic mutants are enriched for those causing neurodegeneration in Drosophila. Genetics 161:1197\u20131208","journal-title":"Genetics"},{"key":"673_CR43","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1523\/JNEUROSCI.23-04-01276.2003","volume":"23","author":"MJ Palladino","year":"2003","unstructured":"Palladino MJ, Bower JE, Kreber R, Ganetzky B (2003) Neural dysfunction and neurodegeneration in Drosophila Na+\/K+ATPase alpha subunit mutants. J Neurosci 23:1276\u20131286","journal-title":"J Neurosci"},{"key":"673_CR44","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/S0005-2728(98)00041-3","volume":"1365","author":"MG Palmgren","year":"1998","unstructured":"Palmgren MG, Axelsen KB (1998) Evolution of P-type ATPases. Biochim Biophys Acta 1365:37\u201345","journal-title":"Biochim Biophys Acta"},{"key":"673_CR45","doi-asserted-by":"crossref","first-page":"4963","DOI":"10.1242\/dev.00691","volume":"130","author":"SM Paul","year":"2003","unstructured":"Paul SM, Ternet M, Salvaterra PM, Beitel GJ (2003) The Na+\/K+ ATPase is required for septate junction function and epithelial tube-size control in the Drosophila tracheal system. Development 130:4963\u20134974","journal-title":"Development"},{"key":"673_CR46","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1242\/dev.02710","volume":"134","author":"SM Paul","year":"2007","unstructured":"Paul SM, Palladino MJ, Beitel GJ (2007) A pump-independent function of the Na, K-ATPase is required for epithelial junction function and tracheal tube-size control. Development 134:147\u2013155","journal-title":"Development"},{"key":"673_CR47","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1111\/j.1468-2982.2006.01002.x","volume":"26","author":"F Pierelli","year":"2006","unstructured":"Pierelli F, Grieco GS, Pauri F, Pirro C, Fiermonte G, Ambrosini A, Costa A, Buzzi MG, Valoppi M, Caltagirone C, Nappi G, Santorelli FM (2006) A novel ATP1A2 mutation in a family with FHM type II. Cephalalgia 26:324\u2013328","journal-title":"Cephalalgia"},{"key":"673_CR48","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.nurt.2007.01.008","volume":"4","author":"D Pietrobon","year":"2007","unstructured":"Pietrobon D (2007) Familial hemiplegic migraine. Neurotherapeutics 4:274\u2013284","journal-title":"Neurotherapeutics"},{"key":"673_CR49","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.semnephrol.2005.03.008","volume":"25","author":"SA Rajasekaran","year":"2005","unstructured":"Rajasekaran SA, Barwe SP, Rajasekaran AK (2005) Multiple functions of Na, K-ATPase in epithelial cells. Semin Nephrol 25:328\u2013334","journal-title":"Semin Nephrol"},{"key":"673_CR50","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/humu.9361","volume":"26","author":"F Riant","year":"2005","unstructured":"Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E (2005) ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat 26:281","journal-title":"Hum Mutat"},{"key":"673_CR51","doi-asserted-by":"crossref","first-page":"2976","DOI":"10.1101\/gad.1588907","volume":"21","author":"AV Samuelson","year":"2007","unstructured":"Samuelson AV, Carr CE, Ruvkun G (2007) Gene activities that mediate increased life span of C. elegans insulin-like signaling mutants. Genes Dev 21:2976\u20132994","journal-title":"Genes Dev"},{"key":"673_CR52","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/0896-6273(94)90278-X","volume":"12","author":"M Schubiger","year":"1994","unstructured":"Schubiger M, Feng Y, Fambrough DM, Palka J (1994) A mutation of the Drosophila sodium pump alpha subunit gene results in bang-sensitive paralysis. Neuron 12:373\u2013381","journal-title":"Neuron"},{"key":"673_CR53","doi-asserted-by":"crossref","first-page":"43692","DOI":"10.1074\/jbc.M407471200","volume":"279","author":"L Segall","year":"2004","unstructured":"Segall L, Scanzano R, Kaunisto MA, Wessman M, Palotie A, Gargus JJ, Blostein R (2004) Kinetic alterations due to a missense mutation in the Na, K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. J Biol Chem 279:43692\u201343696","journal-title":"J Biol Chem"},{"key":"673_CR54","doi-asserted-by":"crossref","first-page":"11106","DOI":"10.1073\/pnas.0504323102","volume":"102","author":"L Segall","year":"2005","unstructured":"Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R (2005) Alterations in the alpha2 isoform of Na, K-ATPase associated with familial hemiplegic migraine type 2. Proc Natl Acad Sci USA 102:11106\u201311111","journal-title":"Proc Natl Acad Sci USA"},{"key":"673_CR55","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1534\/genetics.108.087551","volume":"179","author":"JL Seigle","year":"2008","unstructured":"Seigle JL, Celotto AM, Palladino MJ (2008) Degradation of functional triose phosphate isomerase protein underlies sugarkill pathology. Genetics 179:855\u2013862","journal-title":"Genetics"},{"key":"673_CR56","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/0006-3002(57)90343-8","volume":"23","author":"JC Skou","year":"1957","unstructured":"Skou JC (1957) The influence of some cations on an adenosine triphosphatase from peripheral nerves. Biochim Biophys Acta 23:394\u2013401","journal-title":"Biochim Biophys Acta"},{"key":"673_CR57","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1023\/A:1020196612909","volume":"18","author":"JC Skou","year":"1998","unstructured":"Skou JC (1998) Nobel Lecture. The identification of the sodium pump. Biosci Rep 18:155\u2013169","journal-title":"Biosci Rep"},{"key":"673_CR58","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s10048-004-0183-2","volume":"5","author":"M Spadaro","year":"2004","unstructured":"Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, Frontali M, Jurkat-Rott K (2004) A G301R Na+\/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics 5:177\u2013185","journal-title":"Neurogenetics"},{"key":"673_CR59","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/S1096-4959(01)00470-5","volume":"130","author":"B Sun","year":"2001","unstructured":"Sun B, Xu P, Wang W, Salvaterra PM (2001) In vivo modification of Na(+), K(+)-ATPase activity in Drosophila. Comp Biochem Physiol B Biochem Mol Biol 130:521\u2013536","journal-title":"Comp Biochem Physiol B Biochem Mol Biol"},{"key":"673_CR60","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/ana.20134","volume":"55","author":"KJ Swoboda","year":"2004","unstructured":"Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S (2004) Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol 55:884\u2013887","journal-title":"Ann Neurol"},{"key":"673_CR61","first-page":"115","volume":"35","author":"M Tatar","year":"2007","unstructured":"Tatar M (2007) Diet restriction in Drosophila melanogaster. Design and analysis. Interdiscip Top Gerontol 35:115\u2013136","journal-title":"Interdiscip Top Gerontol"},{"key":"673_CR62","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1126\/science.1057987","volume":"292","author":"M Tatar","year":"2001","unstructured":"Tatar M, Kopelman A, Epstein D, Tu MP, Yin CM, Garofalo RS (2001) A mutant Drosophila insulin receptor homolog that extends life-span and impairs neuroendocrine function. Science 292:107\u2013110","journal-title":"Science"},{"key":"673_CR63","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/humu.20229","volume":"26","author":"U Todt","year":"2005","unstructured":"Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Gobel H, Kubisch C (2005) Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. Hum Mutat 26:315\u2013321","journal-title":"Hum Mutat"},{"key":"673_CR64","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/neu.20017","volume":"60","author":"N Trotta","year":"2004","unstructured":"Trotta N, Rodesch CK, Fergestad T, Broadie K (2004) Cellular bases of activity-dependent paralysis in Drosophila stress-sensitive mutants. J Neurobiol 60:328\u2013347","journal-title":"J Neurobiol"},{"key":"673_CR65","doi-asserted-by":"crossref","first-page":"2605","DOI":"10.1152\/japplphysiol.00448.2003","volume":"95","author":"WA Van Voorhies","year":"2003","unstructured":"Van Voorhies WA, Khazaeli AA, Curtsinger JW (2003) Selected contribution: long-lived Drosophila melanogaster lines exhibit normal metabolic rates. J Appl Physiol 95:2605\u20132613 discussion 2604","journal-title":"J Appl Physiol"},{"key":"673_CR66","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1152\/japplphysiol.00505.2004","volume":"97","author":"WA Voorhies Van","year":"2004","unstructured":"Van Voorhies WA, Khazaeli AA, Curtsinger JW (2004) Testing the \u201crate of living\u201d model: further evidence that longevity and metabolic rate are not inversely correlated in Drosophila melanogaster. J Appl Physiol 97:1915\u20131922","journal-title":"J Appl Physiol"},{"key":"673_CR67","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ana.10674","volume":"54","author":"KR Vanmolkot","year":"2003","unstructured":"Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM (2003) Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54:360\u2013366","journal-title":"Ann Neurol"},{"key":"673_CR68","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/sj.ejhg.5201607","volume":"14","author":"KR Vanmolkot","year":"2006","unstructured":"Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM (2006a) Two de novo mutations in the Na, K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine. Eur J Hum Genet 14:555\u2013560","journal-title":"Eur J Hum Genet"},{"key":"673_CR69","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ana.20760","volume":"59","author":"KR Vanmolkot","year":"2006","unstructured":"Vanmolkot KR, Stroink H, Koenderink JB, Kors EE, van den Heuvel JJ, van den Boogerd EH, Stam AH, Haan J, De Vries BB, Terwindt GM, Frants RR, Ferrari MD, van den Maagdenberg AM (2006b) Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol 59:310\u2013314","journal-title":"Ann Neurol"},{"key":"673_CR70","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1038\/sj.ejhg.5201841","volume":"15","author":"KR Vanmolkot","year":"2007","unstructured":"Vanmolkot KR, Stam AH, Raman A, Koenderink JB, de Vries B, van den Boogerd EH, van Vark J, van den Heuvel JJ, Bajaj N, Terwindt GM, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM (2007) First case of compound heterozygosity in Na, K-ATPase gene ATP1A2 in familial hemiplegic migraine. Eur J Hum Genet 15:884\u2013888","journal-title":"Eur J Hum Genet"},{"key":"673_CR71","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.exger.2006.09.014","volume":"42","author":"CJ Vermeulen","year":"2007","unstructured":"Vermeulen CJ, Loeschcke V (2007) Longevity and the stress response in Drosophila. Exp Gerontol 42:153\u2013159","journal-title":"Exp Gerontol"},{"key":"673_CR72","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/sleep\/31.4.465","volume":"31","author":"MN Wu","year":"2008","unstructured":"Wu MN, Koh K, Yue Z, Joiner WJ, Sehgal A (2008) A genetic screen for sleep and circadian mutants reveals mechanisms underlying regulation of sleep in Drosophila. Sleep 31:465\u2013472","journal-title":"Sleep"},{"key":"673_CR73","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.cmet.2008.09.006","volume":"8","author":"K Xu","year":"2008","unstructured":"Xu K, Zheng X, Sehgal A (2008) Regulation of feeding and metabolism by neuronal and peripheral clocks in Drosophila. Cell Metab 8:289\u2013300","journal-title":"Cell Metab"},{"key":"673_CR74","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jns.2008.06.033","volume":"273","author":"P Zanotti-Fregonara","year":"2008","unstructured":"Zanotti-Fregonara P, Vidailhet M, Kas A, Ozelius LJ, Clot F, Hindie E, Ravasi L, Devaux JY, Roze E (2008) [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci 273:148\u2013151","journal-title":"J Neurol Sci"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-009-0673-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T07:12:44Z","timestamp":1710313964000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-009-0673-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,12]]},"references-count":75,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["673"],"URL":"https:\/\/doi.org\/10.1007\/s00439-009-0673-2","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,12]]}}}