About: Mitochondrial diseases caused by inherited disorders of ATP synthase     Goto   Sponge   NotDistinct   Permalink

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  • Characterization of molecular etiopathogenic mechanisms of mitochondrial diseases that are caused by specific defects of mitochondrial ATP synthase due to different mutations in mtDNA ATP6 gene, or by nuclear defects affecting biosynthesis of the enzyme. (en)
  • Charakterizace molekulárně etioatogenních mechanizmů vzniku mitochondriálních chorob na podkladě specifických defektů mitochondriální ATP syntázy vyvolaných různými mutacemi v mtDNA ATP6 genu nebo defekty biosyntézy enzymu jaderného původu.
Title
  • Mitochondrial diseases caused by inherited disorders of ATP synthase (en)
  • Mitochondriální choroby na podkladě dědičných poruch ATP syntázy
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  • NR7790
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  • ATPase; mitochondria; mtDNA; mutation; oxidative phosphorylation; inherited diseases; energy conversion; biogenesis (en)
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  • Studies of ATP synthase disorders charasterized 2-bp deletion in ATP6 gene, phenotype of enzyme defects of nuclear origin and showed that these defects cause energy deprivation and enhanced ROS production. (en)
  • Studium poruch ATP syntázy objasnilo působení 2bp-delece ATP6 genu, charakterizovalo fenotyp defektů jaderného původu a ukázalo, že defekty enzymu vedou k energetické deprivaci a zvýšené tvorbě ROS. (cs)
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  • mitochondria
  • mtDNA
  • mutation
  • oxidative phosphorylation
  • energy conversion
  • inherited diseases
  • ATPase
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