A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2

Autor:	A. Margot Umpleby, Huw Alban Davies, Carlo L. Acerini, Christian Wolfrum, Jenny C Wilson, David B. Dunger, Maria A. Soos, S Schinner, Rachel M. Williams, Justin J. Rochford, Markus Stoffel, Inês Barroso, Stella George, Sarah L. Gray, Stephen O'Rahilly, Nicholas J. Wareham, Alan J. Schafer, Peter R. Murgatroyd, David Barford
Rok vydání:	2004
Předmět:	Male medicine.medical_treatment Amino Acid Motifs Type 2 diabetes Diabetes mellitus genetics Cytosol Catalytic Domain Adipocytes Insulin Phosphorylation Genes Dominant Multidisciplinary Nuclear Proteins Cell Differentiation Middle Aged Pedigree DNA-Binding Proteins Hepatocyte Nuclear Factor 3-beta Female Signal Transduction Adult medicine.medical_specialty Molecular Sequence Data Active Transport Cell Nucleus Mutation Missense Protein Serine-Threonine Kinases Biology Article Cell Line Insulin resistance Hyperinsulinism Proto-Oncogene Proteins Internal medicine Diabetes Mellitus medicine Humans Amino Acid Sequence Protein kinase B Aged Cell Nucleus Lipid Metabolism medicine.disease IRS2 Insulin receptor Endocrinology Amino Acid Substitution biology.protein Insulin Resistance Proto-Oncogene Proteins c-akt Transcription Factors
Zdroj:	Science. 304:1325-1328
ISSN:	1095-9203 0036-8075
Popis:	Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we describe a mutation in the gene encoding the protein kinase AKT2/PKBβ in a family that shows autosomal dominant inheritance of severe insulin resistance and diabetes mellitus. Expression of the mutant kinase in cultured cells disrupted insulin signaling to metabolic end points and inhibited the function of coexpressed, wild-type AKT. These findings demonstrate the central importance of AKT signaling to insulin sensitivity in humans.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31a440aea9bff8f35d25446b87b64675 https://doi.org/10.1126/science.1096706 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.