| http://purl.uniprot.org/citations/26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26168218 | http://www.w3.org/2000/01/rdf-schema#comment | "Rare functional variants of ankyrin-B have been implicated in human disease, including hereditary cardiac arrhythmia and type 2 diabetes (T2D). Here, we developed murine models to evaluate the metabolic consequences of these alterations in vivo. Specifically, we generated knockin mice that express either the human ankyrin-B variant R1788W, which is present in 0.3% of North Americans of mixed European descent and is associated with T2D, or L1622I, which is present in 7.5% of African Americans. Young AnkbR1788W/R1788W mice displayed primary pancreatic β cell insufficiency that was characterized by reduced insulin secretion in response to muscarinic agonists, combined with increased peripheral glucose uptake and concomitantly increased plasma membrane localization of glucose transporter 4 (GLUT4) in skeletal muscle and adipocytes. In contrast, older AnkbR1788W/R1788W and AnkbL1622I/L1622I mice developed increased adiposity, a phenotype that was reproduced in cultured adipocytes, and insulin resistance. GLUT4 trafficking was altered in animals expressing mutant forms of ankyrin-B, and we propose that increased cell surface expression of GLUT4 in skeletal muscle and fatty tissue of AnkbR1788W/R1788W mice leads to the observed age-dependent adiposity. Together, our data suggest that ankyrin-B deficiency results in a metabolic syndrome that combines primary pancreatic β cell insufficiency with peripheral insulin resistance and is directly relevant to the nearly one million North Americans bearing the R1788W ankyrin-B variant."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci81317"xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Davis J."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Yang J."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Zhang M."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Bennett V."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Healy J.A."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Lorenzo D.N."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Hohmeier H.E."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/author | "Hostettler J."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/pages | "3087-3102"xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/title | "Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic beta cell insufficiency."xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://purl.uniprot.org/core/volume | "125"xsd:string |
| http://purl.uniprot.org/citations/26168218 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26168218 |
| http://purl.uniprot.org/citations/26168218 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JDD0-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A0N4SVN2-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A087WRM9-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A0N4SW22-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A0N4SWH7-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |
| http://purl.uniprot.org/uniprot/#_A0A0N4SWI0-mappedCitation-26168218 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26168218 |