Genetic, functional, and phenotypic analysis of human variants in the glucokinase regulatory protein gene

Thesis

Genome-wide association (GWA) studies have provided significant insight into the underlying genetic components of common human diseases such as type 2 diabetes (T2D). However, the translation of such genetic findings into biological and clinical insight remains a major challenge. One of the genes implicated in T2D pathogenesis and effects on related glycaemic and lipidaemic traits by the GWA approach is GCKR, encoding glucokinase regulatory protein (GKRP). GKRP inhibits the glycolytic enzy...

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Authors: Rees, M; Matthew G Rees

• Publication date: 2012
• DOI: 10.5287/ora-nbv7wveaq
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: sequencing; glucokinase regulatory protein; genomics; enzyme kinetics and regulation; liver metabolism; dyslipidaemia; glucokinase; genetics; triglycerides; type 2 diabetes
• Subjects: High-Throughput Screening; Chemical biology; Biochemistry; Clinical genetics; Enzymes; Molecular genetics; Metabolism; Genetics (medical sciences); Diabetes; Biology (medical sciences)