Functional and Molecular Mitochondrial Abnormalities Associated with a C → T Transition at Position 3256 of the Human Mitochondrial Genome

This publication has 23 references indexed in Scilit:

• Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene
  Muscle & Nerve, 1995
• A New Point Mutation at Nucleotide Pair-3291 of the Mitochondrial Transfer-RNALeu(Uur) Gene in a Patient with Mitochondrial Myopathy, Encephalopathy, Lactic-Acidosis, and Stroke-Like Episodes (MELAS)
  Biochemical and Biophysical Research Communications, 1994
• Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
  Journal of Clinical Investigation, 1994
• A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
• Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
  The Lancet, 1991
• Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
  Nature, 1991
• Analysis of DNA sequence variation in single cells
  Methods, 1991
• Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination
  Cell, 1989
• Cytochrome c oxidase deficiency in leigh syndrome
  Annals of Neurology, 1987
• Sequence and organization of the human mitochondrial genome
  Nature, 1981