A functional correlate of severity in alternating hemiplegia of childhood

Neurobiology of Disease

Volumn 77, Issue , 2015, Pages 88-93

  Li, Melody ^a   Jazayeri, Dana ^a   Corry, Ben ^b   McSweeney, K Melodi ^c   Heinzen, Erin L ^c,d   Goldstein, David B ^c   Petrou, Steven ^a,e  

^a FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^b AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

^c Institute for Genomic Medicine Columbia University ^*  (United States)

^d Department of Medicine   (United States)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Alternating hemiplegia of childhood; ATP1A3; Na+ K+ ATPase

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN;

ALTERNATING HEMIPLEGIA OF CHILDHOOD; ANIMAL CELL; ARTICLE; ATP1A3 GENE; CHILDHOOD DISEASE; D801N GENE; DISEASE SEVERITY; E815K GENE; ENZYME ACTIVITY; ENZYME BINDING; G947R GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HEMIPLEGIA; HUMAN; MOLECULAR PATHOLOGY; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN SUBUNIT; PROTON TRANSPORT; STRUCTURAL HOMOLOGY; STRUCTURE ACTIVITY RELATION; WILD TYPE; XENOPUS LAEVIS; ANIMAL; CHEMICAL STRUCTURE; DRUG EFFECTS; FEMALE; GENETIC TRANSDUCTION; GENETICS; MALE; MEMBRANE POTENTIAL; METABOLISM; MICROINJECTION; MUTATION; PATCH CLAMP TECHNIQUE; PATHOLOGY; PRESCHOOL CHILD; PROTEIN TRANSPORT;

ANIMALS; CHILD, PRESCHOOL; FEMALE; HEMIPLEGIA; HUMANS; MALE; MEMBRANE POTENTIALS; MICROINJECTIONS; MODELS, MOLECULAR; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PROTEIN TRANSPORT; SODIUM-POTASSIUM-EXCHANGING ATPASE; TRANSDUCTION, GENETIC; XENOPUS LAEVIS;

EID: 84924605443     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2015.02.002     Document Type: Article

References (36)

1. Brashear A., et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007, 130:828-835.
2. Bublitz M., et al. In and out of the cation pumps: P-type ATPase structure revisited. Curr. Opin. Struct. Biol. 2010, 20:431-439.
3. Church J., et al. pH modulation of Ca2+ responses and a Ca2+-dependent K+ channel in cultured rat hippocampal neurones. J. Physiol. 1998, 511(Pt 1):119-132.
4. Demos M.K., et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J. Rare Dis. 2014, 9:15.
5. Donnet C., et al. Thermal denaturation of the Na,K-ATPase provides evidence for alpha-alpha oligomeric interaction and gamma subunit association with the C-terminal domain. J. Biol. Chem. 2001, 276:7357-7365.
6. Eswar N., et al. Comparative protein structure modeling using Modeller. Curr Protoc Bioinforma 2006, (Chapter 5, Unit 5 6).
7. Heinzen E.L., et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat. Genet. 2012, 44:1030-1034.
8. Ishii A., et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One 2013, 8:e56120.
9. Jewell E.A., Lingrel J.B. Comparison of the substrate dependence properties of the rat Na, K-ATPase alpha 1, alpha 2, and alpha 3 isoforms expressed in HeLa cells. J. Biol. Chem. 1991, 266:16925-16930.
10. Kanai R., et al. Crystal structure of a Na+-bound Na+, K+-ATPase preceding the E1P state. Nature 2013, 502:201-206.
11. Kirshenbaum G.S., et al. Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase alpha3 missense mutant mice. PLoS One 2013, 8:e60141.
12. Larkin M.A., et al. Clustal W and Clustal X version 2.0. Bioinformatics 2007, 23:2947-2948.
13. Li C., et al. The third sodium binding site of Na,K-ATPase is functionally linked to acidic pH-activated inward current. J. Membr. Biol. 2006, 213:1-9.
14. Li X.Q., et al. Polarity and hydrophobicity interactions in protein synthesis process. J. Theor. Biol. 2006, 240:87-97.
15. Liman E.R., et al. Subunit stoichiometry of a mammalian K+ channel determined by construction of multimeric cDNAs. Neuron 1992, 9:861-871.
16. McGrail K.M., et al. Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na, K-ATPase. J. Neurosci. 1991, 11:381-391.
17. Mikati M.A., et al. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr. Neurol. 2000, 23:134-141.
18. Neville B.G., Ninan M. The treatment and management of alternating hemiplegia of childhood. Dev. Med. Child Neurol. 2007, 49:777-780.
19. Ogawa H., et al. Crystal structure of the sodium-potassium pump (Na+, K+-ATPase) with bound potassium and ouabain. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:13742-13747.
20. Petrou S., et al. P2X7 purinoceptor expression in Xenopus oocytes is not sufficient to produce a pore-forming P2Z-like phenotype. FEBS Lett. 1997, 411:339-345.
21. Post R.L., et al. Activation by adenosine triphosphate in the phosphorylation kinetics of sodium and potassium ion transport adenosine triphosphatase. J. Biol. Chem. 1972, 247:6530-6540.
22. Poulsen H., et al. Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase. Nature 2010, 467:99-102.
23. Rosewich H., et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012, 11:764-773.
24. Rosewich H., et al. A novel ATP1A3 mutation with unique clinical presentation. J. Neurol. Sci. 2014, 341(1-2):133-135.
25. Sasaki M., et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014, 82:482-490.
26. Schuchmann S., et al. Respiratory alkalosis in children with febrile seizures. Epilepsia 2011, 52:1949-1955.
27. Shinoda T., et al. Crystal structure of the sodium-potassium pump at 2.4 A resolution. Nature 2009, 459:446-450.
28. Sweney M.T., et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics 2009, 123:e534-e541.
29. Takahashi K.I., Copenhagen D.R. Modulation of neuronal function by intracellular pH. Neurosci. Res. 1996, 24:109-116.
30. Tombaugh G.C., Somjen G.G. Effects of extracellular pH on voltage-gated Na+, K+ and Ca2+ currents in isolated rat CA1 neurons. J. Physiol. 1996, 493(Pt 3):719-732.
31. Traynelis S.F., Cull-Candy S.G. Pharmacological properties and H+ sensitivity of excitatory amino acid receptor channels in rat cerebellar granule neurones. J. Physiol. 1991, 433:727-763.
32. Vedovato N., Gadsby D.C. The two C-terminal tyrosines stabilize occluded Na/K pump conformations containing Na or K ions. J. Gen. Physiol. 2010, 136:63-82.
33. Vedovato N., Gadsby D.C. Route, mechanism, and implications of proton import during Na+/K+ exchange by native Na+/K+-ATPase pumps. J. Gen. Physiol. 2014, 143:449-464.
34. Waldmann R., Lazdunski M. H(+)-gated cation channels: neuronal acid sensors in the NaC/DEG family of ion channels. Curr. Opin. Neurobiol. 1998, 8:418-424.
35. Weigand K.M., et al. Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+), K(+)-ATPase activity and ouabain binding. Biochim. Biophys. Acta 2014, 1842:1010-1016.
36. Yang X., et al. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. PLoS One 2014, 9:e97274.