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The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.
Sowers CR, Wang R, Bourne RA, McGrath BC, Hu J, Bevilacqua SC, Paton JC, Paton AW, Collardeau-Frachon S, Nicolino M, Cavener DR. Sowers CR, et al. Among authors: nicolino m. J Biol Chem. 2018 Apr 6;293(14):5134-5149. doi: 10.1074/jbc.M117.813790. Epub 2018 Feb 14. J Biol Chem. 2018. PMID: 29444822 Free PMC article.
Wolcott-Rallison syndrome.
Julier C, Nicolino M. Julier C, et al. Among authors: nicolino m. Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Orphanet J Rare Dis. 2010. PMID: 21050479 Free PMC article. Review.
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C. Senée V, et al. Among authors: nicolino m. Diabetes. 2004 Jul;53(7):1876-83. doi: 10.2337/diabetes.53.7.1876. Diabetes. 2004. PMID: 15220213
Neurological features in adult Triple-A (Allgrove) syndrome.
Vallet AE, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, Pouget J, Vial C. Vallet AE, et al. Among authors: nicolino m. J Neurol. 2012 Jan;259(1):39-46. doi: 10.1007/s00415-011-6115-9. Epub 2011 Jun 9. J Neurol. 2012. PMID: 21656342
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C. Abdulkarim B, et al. Among authors: nicolino m. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9. Diabetes. 2015. PMID: 26159176 Free PMC article.
164 results