Genetické a funkční příčiny mitochondriálních chorob vyvolaných defekty ATP syntázy

Doctoral thesis English RESTRICTED
Tauchmannová, Kateřina;
(2015)
  • Subject: nedostatečnost ATP syntázy; threshold effect; prahový efekt; heteroplazmie; OXPHOS system; Mitochondriální onemocnění; ATP synthase deficiency; biogeneze ATP syntázy; ATP synthase biogenesis; Mitochondrial diseases; mutace mtDNA; TMEM70; MT-ATP6; heteroplasmy; mtDNA mutation; OXPHOS systém

Disorders of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting mostly as early-onset mitochondrial encephalo-cardio-myopathies. Mutations in four nuclear genes can result in isolated deficiency of ATP ... View more
Share - Bookmark