Article
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease.
The Journal of physiology - 1 Jan 2021
Vera Erwin, Cornejo Isabel, Niemeyer María Isabel, Sepúlveda Francisco V, Cid L Pablo
Abstract excerpt
KEY POINTS: Kir7.1 K+ channel expressed in retinal pigment epithelium is mutated in inherited retinal degeneration diseases. We study Kir7.1 in heterologous expression to test the hypothesis that pathological R162 mutation to neutral amino acids results in loss of a crucial site that binds PI(4,5)P2 . Although R162W mutation inactivates Kir7.1, changes to smaller volume (e.g. Gln) amino acids are tolerated or...
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