Article
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Proceedings of the National Academy of Sciences of the United States of America - 16 Feb 2010
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, Perez de Nanclares Guiomar, Hattersley Andrew T
Abstract excerpt
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 apo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.