Visar resultat 1 - 5 av 8 avhandlingar innehållade ordet ATP7B.
Sammanfattning : ABSTRACT Copper (Cu) is an important trace element that plays a vital role in several biological processes. It mediates numerous biochemical functions to maintain cellular homeostasis making it an essential metal for sustaining life. LÄS MER
Sammanfattning : ABSTRACT Copper (Cu) is an important trace element that plays a vital role in several biological processes. Many proteins that are involved in various biochemical pathways require Cu as a cofactor. LÄS MER
Sammanfattning : Many processes in living systems occur through transient interactions among proteins. Those interactions are often weak and are driven by small changes in free energy. LÄS MER
Sammanfattning : Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessary for proper copper excretion into bile. It is characterised by copper accumulation with hepatic and central nervous system dysfunction. LÄS MER
Sammanfattning : Wilson's disease (WD), bepatolenticular degeneration, is an autosomal recessive disorder caused by mutations in the ATP7B gene, and is characterised by abnormal metabolism and deposition of copper in the liver, brain and other organs. The main aim of this thesis was to investigate the occurrence of psychopathology, as well as personality traits and neuropsychological function in Swedish patients with treated WD. LÄS MER