C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Eitemau Tebyg

• Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells
  gan: Marcus, Dana, et al.
  Cyhoeddwyd: (2013)
• Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
  gan: Abdulhag, Ulla Najwa, et al.
  Cyhoeddwyd: (2015)
• Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
  gan: Edvardson, Simon , et al.
  Cyhoeddwyd: (2007)
• Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
  gan: Zeharia, Avraham, et al.
  Cyhoeddwyd: (2016)
• Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
  gan: Spiegel, Ronen, et al.
  Cyhoeddwyd: (2016)