A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
- 1 April 2009
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 96 (4) , 189-195
- https://doi.org/10.1016/j.ymgme.2008.12.004
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseJournal of Medical Genetics, 2007
- Projection Structure of the Membrane Domain of Escherichia coli Respiratory Complex I at 8 Å ResolutionJournal of Molecular Biology, 2007
- An enhanced MITOMAP with a global mtDNA mutational phylogenyNucleic Acids Research, 2006
- Bovine Complex I Is a Complex of 45 Different SubunitsJournal of Biological Chemistry, 2006
- The role of the ESSS protein in the assembly of a functional and stable mammalian mitochondrial complex I (NADH‐ubiquinone oxidoreductase)European Journal of Biochemistry, 2004
- The Phosphorylation of Subunits of Complex I from Bovine Heart MitochondriaJournal of Biological Chemistry, 2004
- Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNAScience, 2004
- Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutationAmerican Journal of Medical Genetics Part A, 2003
- Mutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic NeuropathyBiochemical and Biophysical Research Communications, 1997
- Maternal inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences, 1980