Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

This publication has 17 references indexed in Scilit:

• NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2‐kDa subunit
  FEBS Letters, 1998
• Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art
  Human Molecular Genetics, 1998
• Cloning of the Human Mitochondrial 51 kDa Subunit (NDUFV1) Reveals a 100% Antisense Homology of Its 3′UTR with the 5′UTR of the γ-Interferon Inducible Protein (IP-30) Precursor: Is This a Link between Mitochondrial Myopathy and Inflammation?
  Biochemical and Biophysical Research Communications, 1998
• Systemic Infantile Complex I Deficiency with Fatal Outcome in Two Brothers
  Neuropediatrics, 1998
• Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins
  Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1992
• DISEASES OF THE MITOCHONDRIAL DNA
  Annual Review of Biochemistry, 1992
• cDNA-derived amino acid sequence of the NADH-binding 51-kDa subunit of the bovine respiratory NADH dehydrogenase reveals striking similarities to a bacterial NAD(+)-reducing hydrogenase.
  Proceedings of the National Academy of Sciences, 1991
• Relationship between mitochondrial NADH-ubiquinone reductase and a bacterial NAD-reducing hydrogenase
  Biochemistry, 1991
• N-Arylazido-.beta.-alanyl-Nad+, a new nad+ photoaffinity analog. Synthesis and labeling of mitochondrial NADH dehydrogenase
  Biochemistry, 1990
• THE MITOCHONDRIAL ELECTRON TRANSPORT AND OXIDATIVE PHOSPHORYLATION SYSTEM
  Annual Review of Biochemistry, 1985