نتایج جستجو برای: wilson disease
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BACKGROUND Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are ...
Wilson disease is a pathology because of a gene mutation causing malfunction in the copper excretion from the organism. Therefore, copper accumulation in the human body gives rise to oxidative processes. Hence, Wilson disease causes several disorders including affecting tissues and organs. Neurological disorders leads to copper accumulation in the human body. Approximately 95% of individuals wi...
Copper is an essential yet toxic metal and its overload causes Wilson disease, a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes. However, the trafficking mechanisms of ATP7B remain elusive. Here, we show that, in response to elevated copper, ATP7B moves from the Golgi to lysosomes and imports me...
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