Article
Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function.
Biochimica et biophysica acta - 1 Nov 2016
Holm Rikke, Toustrup-Jensen Mads S, Einholm Anja P, Schack Vivien R, Andersen Jens P, Vilsen Bente
Abstract excerpt
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 of these mutations on Na+,K+-ATPase function have been studied in vitro. Here we discuss the α3 disease mutations as well as information derived from studies of...
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