Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apopto...

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Κύριοι συγγραφείς: Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O’Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Johnstone, Karen, Flanagan, Sarah E., Martínez, Rosa, Castaño, Carlos, Patch, Ann-Marie, Fernández-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castaño, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez, Hattersley, Andrew T.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2010
Θέματα:
Biological Sciences
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2840338/
https://ncbi.nlm.nih.gov/pubmed/20133622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0910533107
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