Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.

doi:10.1096/fj.202401567R

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Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Nov 2024

Zuniga Dania, Zoumpoulakis Andreas, Veloso Rafael F, Peverini Laurie, Shi Sophie, Pozza Alexandre, Kugler Valérie, Bonneté Françoise, Bouceba Tahar, Wagner Renaud, Corringer Pierre-Jean, Fernandes Carlos A H, Vénien-Bryan Catherine

Abstract excerpt

Inwardly rectifying potassium (Kir) channels play a pivotal role in physiology by establishing, maintaining, and regulating the resting membrane potential of the cells, particularly contributing to the cellular repolarization of many excitable cells. Dysfunction in Kir2.1 channels is implicated in several chronic and debilitating human diseases for which there are currently no effective treatments. Specifically,...

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PMID: 39520289
DOI: 10.1096/fj.202401567R

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Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.PMID 39520289Read ↗

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndromeSemantic proximity Read ↗

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