About: WILSON DISEASE - GENETIC FACTORS,MOLECULAR PATHOLOGY AND STUDY OF COPPER TRANPORT.     Goto   Sponge   NotDistinct   Permalink

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  • V projektu budeme studovat genetické příčiny a molekulární patologii Wilsonovy choroby pomocí molekulárně biologických technik a studovat na modelové situaci důsledky jednotlivých mutací na strukturu a funkci měď transportujícího proteinu. Cílem studie je nalézt mutace odpovědné za onemocnění Wilsonovou chorobou,zlepšit diagnostiku a léčbu a objasnit procesy vnitrobuněčného transportu mědi a vliv na stárnutí mitochondriální DNA. (cs)
  • In the proposed project,the genetic causes and molecular pathology of Wilson disease will be addessed using molecular biology techniques.The structural and functional consequences of individual mutations on copper transporting protein will be studied. The aim of the study is to find mutations responsible for the Wilson disease (WD),to study mitochondrial DNA changes in WD,to improve diagnosis and therapy of WD and to clarify the processes of intracellular copper transport. (en)
Title
  • Wilsonova choroba: Genetické faktory,molekulární patologie a vnitrobuněčný transport mědi. (cs)
  • WILSON DISEASE - GENETIC FACTORS,MOLECULAR PATHOLOGY AND STUDY OF COPPER TRANPORT. (en)
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  • Wilson disease;Copper transport;Cirrhosis;Genetic analysis;mutagenesis;ATP7B gene;Prevention;mitochondrial DNA (en)
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