Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"Wilson disease"”.
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MODULATION OF TRPML1/TFEB PATHWAY FOR THE TREATMENT OF WILSON DISEASE
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic copper accumulation in several tissues, resulting in hepatic and neurological impairment. WD is caused by mutations in the P-type ATPase copper transporting B (ATP7B) gene, responsible for copper supply to cuproproteins …
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HSP70 as a Target for Correction of Wilson Disease Causing ATP7B Mutants
… into the bile. Mutations in the ATP7B result in Wilson disease (WD) that is caused by the toxic accumulation of Cu in the liver due to the loss of ATP7B function. The most frequent ATP7B mutant, H1069Q, still preserves a significant Cu-transporting activity, but undergoes retention and …
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The Mechanism of Copper Toxicity in Escherichia Coli
… cirrhosis, Tyrolean infantile cirrhosis, and Wilson disease. Studies in eukaryotic systems demonstrated that copper-toxified cells had elevated levels of DNA damage and oxidative stress. Therefore, the mechanism of copper toxicity was hypothesized to be mediated by oxidative DNA damage through …
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Der Einfluss von Fatigue auf die Lebensqualität von Patienten mit Leberzirrhose
… impression that many patients with chronic liver disease develop fatigue symptoms. The aim of this work was therefore to determine its importance and its impact on quality of life, mental health and cognitive functioning in patients with cirrhosis without hepatic encephalopathy. 43 cirrhotic …
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Investigating The Metal Binding Sites In Znta, A Zinc Transporting Atpase
… PINA splice variant of the copper-transporting Wilson disease-associated protein. Del231-ZntA had very low in vitro activity but was able to bind metal ions with a stoichiometry of 0.5, instead of the expected 1.</p>