Article
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Proceedings of the National Academy of Sciences of the United States of America - 28 Jun 2016
Siggs Owen M, Stockenhuber Alexander, Deobagkar-Lele Mukta, Bull Katherine R, Crockford Tanya L, Kingston Bethany L, Crawford Greg, Anzilotti Consuelo, Steeples Violetta, Ghaffari Sahar, Czibik Gabor, Bellahcene Mohamed, Watkins Hugh, Ashrafian Houman, Davies Benjamin, Woods Angela, Carling David, Yavari Arash, Beutler Bruce, Cornall Richard J
Abstract excerpt
Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK). Although it is clear that this complex influences AMPK and other metabolic regulators, reports of its effects have been inconsistent. To address...
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