Sökning: "ATP7B"

Visar resultat 1 - 5 av 9 avhandlingar innehållade ordet ATP7B.

  1. 1. Development of a Yeast Model for Functional Analysis of Human Copper Transport Proteins

    Författare :Kumaravel Ponnandai Schanmugavel; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; luminal loop; metal binding domains; Wilson’s disease protein; yeast model; ATP7B; copper transport.;

    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

  3. 2. Engineering Yeast for Functional Analysis of Human Cu Transport Proteins

    Författare :Kumaravel Ponnandai Schanmugavel; Chalmers tekniska högskola; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cu transport; yeast model; Atox1; genetic engineering; Wilson disease protein; ATP7B; complementation assay; yeast growth; metal-binding domain; mechanisms.;

    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

  4. 3. Human copper ion transfer : from metal chaperone to target transporter domain

    Författare :Moritz Sebastian Niemiec; Pernilla Wittung-Stafshede; Nigel Robinson; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; copper homeostasis; copper chaperone; Atox1; ATP7B; Wilson disease protein; metal transport; size exclusion chromatography; thermodynamics; isothermal calorimetry;

    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

  5. 4. Genetical and Clinical Studies in Wilson's Disease

    Författare :Erik Waldenström; Kerstin Westermark; Ulf Landegren; Ann-Christine Syvänen; Peter Ferenci; Uppsala universitet; []
    Nyckelord :Internal medicine; copper radioisotopes; DNA sequence analyses; genotype; hepatolenticular degeneration; neoplasms; phenotype; positron-emission tomography; psychopathology; Invärtesmedicin;

    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

  7. 5. Psychopathology in Wilson's Disease

    Författare :Kamilla Portala; Birgitta Rembeck; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurosciences; Wilson´s disease; psychopathology. personality traits; neuropsychological impairment; sleep; CPRS; KSP; Neurovetenskap; Neurology; Neurologi; Psychiatry; psykiatri;

    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