COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Lignende værker

• Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
  af: Invernizzi, Federica, et al.
  Udgivet: (2014)
• Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
  af: Melchionda, Laura, et al.
  Udgivet: (2014)
• Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance
  af: Ardissone, Anna, et al.
  Udgivet: (2015)
• Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster
  af: Brischigliaro, Michele, et al.
  Udgivet: (2019)
• Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals
  af: Michele Brischigliaro, et al.
  Udgivet: (2022-05-01)