Search for dissertations about: "wilson disease"

Showing result 1 - 5 of 6 swedish dissertations containing the words wilson disease.

2. 1. Molecular mechanisms of nerve-tumor interactions : the intersection of cancer and neurodevelopment

   Author : Luz Maria Gonzalez-Castrillon; Sara I Wilson; Daniel Öhlund; Nisha D’Silva; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Perineural invasion; cancer; PDAC; axonogenesis; neurodevelopment; spinal cord; axon guidance; bioinformatics.; biomedical laboratory science; biomedicinsk laboratorievetenskap;

   Abstract : A wide range of cancers throughout the body are characterized by high nerve density and invasion of cancer cells within the nerves, a process called perineural invasion (PNI). Work in the field has shown that blocking nerves in organs with tumors leads to improved disease outcomes suggesting that finding ways to block tumor nerves could lead to new treatment approaches. READ MORE

4. 2. Psychopathology in Wilson's Disease

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

   Abstract : 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. READ MORE

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

   Author : Kumaravel Ponnandai Schanmugavel; Chalmers tekniska högskola; []
   Keywords : 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.;

   Abstract : 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. READ MORE

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

   Author : Moritz Sebastian Niemiec; Pernilla Wittung-Stafshede; Nigel Robinson; Umeå universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

7. 5. Quantitative analysis of disease associated mutations and sequence variants

   Author : Charlotta Olsson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

   Abstract : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. READ MORE