Distinct effects of Q925 mutation on intracellular and extracellular Na+ and K+ binding to the Na+, K+-ATPase

Autor: Kerri Spontarelli, Anja P. Einholm, Hang N Nielsen, Pablo Artigas, Jens Peter Andersen, Bente Vilsen, Rikke Holm

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)
Nielsen, H N, Spontarelli, K, Holm, R, Andersen, J P, Einholm, A P, Artigas, P & Vilsen, B 2019, ' Distinct effects of Q925 mutation on intracellular and extracellular Na+ and K+ binding to the Na+, K+-ATPase ', Scientific Reports, vol. 9, no. 1, 13344 . https://doi.org/10.1038/s41598-019-50009-2

Three Na+ sites are defined in the Na+-bound crystal structure of Na+, K+-ATPase. Sites I and II overlap with two K+ sites in the K+-bound structure, whereas site III is unique and Na+ specific. A glutamine in transmembrane helix M8 (Q925) appears fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754d371db8c54bf2cc4145671361d338
https://doi.org/10.1038/s41598-019-50009-2

Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function

Autor: Vivien Rodacker Schack, Bente Vilsen, Anja P. Einholm, Mads S. Toustrup-Jensen, Rikke Holm, Jens Peter Andersen

Publikováno v: Holm, R, Toustrup-Jensen, M S, Einholm, A P, Schack, V, Andersen, J P & Vilsen, B 2016, ' Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function ', B B A-Bioenergetics, vol. 1857, no. 11, pp. 1807–1828 . https://doi.org/10.1016/j.bbabio.2016.08.009

Na+,K+-ATPase creates transmembrane ion gradients crucial to the function of the central nervous system. The α-subunit of Na+,K+-ATPase exists as four isoforms (α1-α4). Several neurological phenotypes derive from α3 mutations. The effects of some

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe2a3c377dad12edce2bf5f1ccfbecb
https://doi.org/10.1016/j.bbabio.2016.08.009

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

Autor: Hang N Nielsen, Mads S. Toustrup-Jensen, Torben Clausen, Jens Peter Andersen, María-Jesús Sobrido, Vivien Rodacker Schack, Bente Vilsen, Anja P. Einholm, Rikke Holm

Publikováno v: Aarhus University
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Toustrup-Jensen, M S, Einholm, A P, Schack, V, Nielsen, H N, Holm, R, Sobrido, M-J, Andersen, J P, Clausen, T & Vilsen, B 2014, ' Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease ', Journal of Biological Chemistry, vol. 289(6), pp. 3186-3197 .

The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na(+),K(+)-ATPase α2 and α3 isoforms, expressed in glial and ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e008b93fa3ddc3abe5048cffddfc4148
https://doi.org/10.1074/jbc.m113.543272

Rescue of Na+ Affinity in Aspartate-928 Mutants of Na+, K+-ATPase by Secondary Mutation of Glutamate-314

Autor: Rikke Holm, Anja P. Einholm, Jens P. Andersen, Pablo Artigas, Bente Vilsen

Publikováno v: Biophysical Journal. 110(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa7fab22ac7949b236cec60063868da

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

Autor: Mads S. Toustrup-Jensen, Hugo Gutiérrez-de-Terán, Hafsa Mamsa, Anja P. Einholm, Patricia Blanco-Arias, Joanna C. Jen, Jesús Romero, Angel Carracedo, María-Jesús Sobrido, Bente Vilsen, Carla Concheiro

Publikováno v: Human Molecular Genetics. 18:2370-2377

The Na+/K+-ATPases are ion pumps of fundamental importance in maintaining the electrochemical gradient essential for neuronal survival and function. Mutations in ATP1A3 encoding the α3 isoform cause rapid-onset dystonia-parkinsonism (RDP). We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11a3a816189921971907c2f05740333
https://doi.org/10.1093/hmg/ddp170