Sökning: "Glycogen storage disease"

Hittade 5 avhandlingar innehållade orden Glycogen storage disease.

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. Two new disorders of glycogen metabolism

   Författare :Johanna Nilsson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glycogen; Glycogenin; Glycogenosis; Glycogen storage disease; Glycosylation; Mass spectrometry;

   Sammanfattning : Glycogen is a polymer of glucose and serves as a source of rapidly available energy. Glycogen synthesis is initiated by autoglucosylation of glycogenin. Two glycogenin genes, GYG1 and GYG2, encode the two isoforms glycogenin-1 and -2, respectively. 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

5. 4. Pathways controlling metabolic and hypertrophic responses in skeletal muscle

   Författare :Isabelle Riedl; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Skeletal muscle displays an extensive capacity to adapt to a wide range of metabolic and mechanical stressors. As an insulin-sensitive and exercise-responding tissue, it plays a key role in the context of therapeutic interventions targeting metabolic diseases including type 2 diabetes (T2D) and obesity. LÄS MER

7. 5. Functional and metabolic alterations in skeletal muscle in response to physiological and pathophysiological stressors

   Författare :Theresa Mader; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Skeletal muscle performance is essential for our body’s movement as well as for the wholebody metabolism. In health and disease, skeletal muscle is exposed to various endogenous and exogenous stressors, influencing its physiological functions. LÄS MER