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Disease genetics

Genomic insights into TASK-1 reveal functional roles in sleep apnea

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KCNK3 mutations identified in sleep apnea probands affect TASK-1 X-gate function. These changes lead to an increase in potassium current and open probability, as well as impaired sensitivity to G-protein-coupled receptor inhibitors.

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Fig. 1: Mutations observed in sleep apnea probands show impaired TASK-1 channel function, as evaluated in X. oocytes.

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Authors and Affiliations

  1. Division of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, University of California, San Diego, CA, USA

    Tatum S. Simonson, Esteban A. Moya & Atul Malhotra

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  1. Tatum S. Simonson
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  2. Esteban A. Moya
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  3. Atul Malhotra
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Correspondence to Atul Malhotra.

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Competing interests

A.M. reports income related to medical education from Zoll, Livanova, Eli Lilly and Jazz. ResMed provided a philanthropic donation to University of California, San Diego. T.S.S. and E.A.M. declare no competing interests.

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Simonson, T.S., Moya, E.A. & Malhotra, A. Genomic insights into TASK-1 reveal functional roles in sleep apnea. Nat Genet 54, 1451–1452 (2022). https://doi.org/10.1038/s41588-022-01195-9

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