van der Knaap, M.S. et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 53, 252–258 (2003).
van der Knaap, M.S. & Valk, J. Magnetic Resonance of Myelination and Myelin Disorders (Springer Verlag, Berlin, 2005).
Linnankivi, T. et al. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology 63, 688–692 (2004).
Serkov, S.V. et al. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 35, 1–5 (2004).
Petzold, G.C. et al. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J. Neurol. Neurosurg. Psychiatry 77, 889–891 (2006).
Eiler, S., Dock-Bregeon, A., Moulinier, L., Thierry, J.C. & Moras, D. Synthesis of aspartyl-tRNA(Asp) in Escherichia coli–a snapshot of the second step. EMBO J. 18, 6532–6541 (1999).
Smeitink, J.A. et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79, 869–877 (2006).
Coenen, M.J. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080–2086 (2004).
DiMauro, S. & Schon, E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656–2668 (2003).
Schapira, A.H. Mitochondrial disease. Lancet 368, 70–82 (2006).
Shoubridge, E.A. Nuclear genetic defects of oxidative phosphorylation. Hum. Mol. Genet. 10, 2277–2284 (2001).
Dittmar, K.A., Goodenbour, J.M. & Pan, T. Tissue-specific differences in human transfer RNA expression. PLoS Genet. 2, e221 (2006).
Park, S.G., Ewalt, K.L. & Kim, S. Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers. Trends Biochem. Sci. 30, 569–574 (2005).
Bonnefond, L. et al. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry 44, 4805–4816 (2005).
Seneca, S. et al. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am. J. Med. Genet. A. 137, 170–175 (2005).
Jordanova, A. et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat. Genet. 38, 197–202 (2006).
Antonellis, A. et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293–1299 (2003).
Lee, J.W. et al. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 443, 50–55 (2006).
Antonellis, A. et al. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J. Neurosci. 26, 10397–10406 (2006).
Jacobs, H.T. & Turnbull, D.M. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet. 21, 312–314 (2005).
't Hart, L.M. et al. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. Diabetes 54, 1892–1895 (2005).
Leegwater, P.A. et al. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am. J. Hum. Genet. 65, 728–734 (1999).
Forshew, T. & Johnson, C.A. SCAMP: a spreadsheet to collate autozygosity mapping projects. J. Med. Genet. 41, e125 (2004).
Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12–13 (2000).
van Kollenburg, B. et al. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J. Neuropathol. Exp. Neurol. 65, 707–715 (2006).
Jacobs, E.H. et al. Active heroin administration induces specific genomic responses in the nucleus accumbens shell. FASEB J. 16, 1961–1963 (2002).
Scholte, H.R. et al. Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver. J. Inherit. Metab. Dis. 15, 347–352 (1992).
Smet, J., Devreese, B., van Beeumen, J. & van Coster, R. Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes. in Cell Biology: a Laboratory Handbook (ed. Celis, J.) 259–264 (Academic, San Diego, 2005).
Van Coster, R. et al. Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr. Res. 50, 658–665 (2001).
de Paepe, B. et al. Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. Pediatr. Res. 59, 2–6 (2006).