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A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F. Abreu D, et al. JCI Insight. 2021 Aug 9;6(15):e145188. doi: 10.1172/jci.insight.145188. JCI Insight. 2021. PMID: 34185708 Free PMC article. Clinical Trial.
Primary cilia control glucose homeostasis via islet paracrine interactions.
Hughes JW, Cho JH, Conway HE, DiGruccio MR, Ng XW, Roseman HF, Abreu D, Urano F, Piston DW. Hughes JW, et al. Proc Natl Acad Sci U S A. 2020 Apr 21;117(16):8912-8923. doi: 10.1073/pnas.2001936117. Epub 2020 Apr 6. Proc Natl Acad Sci U S A. 2020. PMID: 32253320 Free PMC article.
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. De Franco E, et al. Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3. Diabetes. 2017. PMID: 28468959 Free PMC article.