KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

•Mutations in KSR2 are associated with obesity in humans•Mutations affect ERK signaling and impair the oxidation of glucose and fatty acids•Patients display hyperphagia, insulin resistance, and a reduced basal metabolic rate•KSR2 is an important regulator of energy intake and expenditure in humans...

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Main Authors: Pearce, Laura R., Atanassova, Neli, Banton, Matthew C., Bottomley, Bill, van der Klaauw, Agatha A., Revelli, Jean-Pierre, Hendricks, Audrey, Keogh, Julia M., Henning, Elana, Doree, Deon, Jeter-Jones, Sabrina, Garg, Sumedha, Bochukova, Elena G., Bounds, Rebecca, Ashford, Sofie, Gayton, Emma, Hindmarsh, Peter C., Shield, Julian P.H., Crowne, Elizabeth, Barford, David, Wareham, Nick J., O’Rahilly, Stephen, Murphy, Michael P., Powell, David R., Barroso, Ines, Farooqi, I. Sadaf
Format: Online
Language:English
Published: Cell Press 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898740/