Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA

Những quyển sách tương tự

• The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
  Bằng: Gray, R, et al.
  Được phát hành: (2002)
• Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
  Bằng: Tatuch, Y, et al.
  Được phát hành: (1992)
• De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
  Bằng: Takahashi, S, et al.
  Được phát hành: (1998)
• Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
  Bằng: Trounce, I, et al.
  Được phát hành: (1994)
• Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
  Bằng: Licchetta, Laura, et al.
  Được phát hành: (2021)