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Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
Marthinet E, Bloc A, Oka Y, Tanizawa Y, Wehrle-Haller B, Bancila V, Dubuis JM, Philippe J, Schwitzgebel VM. Marthinet E, et al. Among authors: schwitzgebel vm. J Clin Endocrinol Metab. 2005 Sep;90(9):5401-6. doi: 10.1210/jc.2005-0202. Epub 2005 Jul 5. J Clin Endocrinol Metab. 2005. PMID: 15998776
Hepatic non-parenchymal S100A9-TLR4-mTORC1 axis normalizes diabetic ketogenesis.
Ursino G, Ramadori G, Höfler A, Odouard S, Teixeira PDS, Visentin F, Veyrat-Durebex C, Lucibello G, Firnkes R, Ricci S, Vianna CR, Jia L, Dirlewanger M, Klee P, Elmquist JK, Roth J, Vogl T, Schwitzgebel VM, Jornayvaz FR, Boland A, Coppari R. Ursino G, et al. Nat Commun. 2022 Jul 15;13(1):4107. doi: 10.1038/s41467-022-31803-5. Nat Commun. 2022. PMID: 35840613 Free PMC article.
77 results