Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993

This publication has 30 references indexed in Scilit:

• 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
  Biochemical Journal, 2006
• Two components in pathogenic mechanism of mitochondrial ATPase deficiency: Energy deprivation and ROS production
  Experimental Gerontology, 2006
• Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
  American Journal of Medical Genetics Part A, 2006
• New Insights Into Structure and Function of Mitochondria and Their Role in Aging and Disease
  Antioxidants and Redox Signaling, 2006
• Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations
  Biochemical Journal, 2004
• Bioenergetics of mitochondrial diseases associated with mtDNA mutations
  Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
• Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
  Archives of Neurology, 2002
• Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations
  Journal of Inherited Metabolic Disease, 1998
• Phenotypic Differences Between T → C and T → G Mutations at nt 8993 of Mitochondrial DNA in Leigh Syndrome
  Pediatric Neurology, 1998
• Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome
  Pediatric Research, 1995