Sökning: "GYS1"

Hittade 3 avhandlingar innehållade ordet GYS1.

  1. 1. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

    Författare :Marju Orho-Melander; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. LÄS MER

  3. 2. Genes predisposing to type 2 diabetes and cardiovascular mortality

    Författare :Jenny Fredriksson; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; APOE; APM1; PPARG; PPARGC1A; survival abalysis; Medicin människa och djur ; Medicine human and vertebrates ; Type 2 Diabetes; cardiovascular mortality; glycogen synthase; adiponectin; GYS1;

    Sammanfattning : Cardiovascular complications are frequent in type 2 diabetes (T2D) and cardiovascular death is the most common cause of death for these individuals. A region on chromosome 19 (19q13) has been indicated by several genome scans as a susceptibility locus for T2D or components of the metabolic syndrome (MetS). LÄS MER

  4. 3. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER