The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
An ND-6 mitochondrial DNA mutation associated with leber hereditary optic neuropathy
Open accessAbstract
A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0/250 controls. The 14,484 mutation, which changes methionine-64 to valine in a conserved domain of the ND-6 gene, occurred in association with a mitochondrial DNA haplotype that includes the 13,708 secondary mutation in 10/14 probands. An associated mutation at nucleotide position 3,394, which changes conserved tyrosine-30 to histidine in the ND-1 gene, was observed in 5/14 probands positive for the 14,484 mutation, all of whom harbored the same mitochondrial DNA haplotype. Multiple mitochondrial DNA mutations may interact in the pathogenesis of Leber hereditary optic neuropathy and the 13,708 secondary mutation appears to play a central role in this process.
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Cites
Mitochondrial DNA and human evolution
Cann, R. L., Stoneking, M., & Wilson, A. C. (1987) · Nature · doi:10.1038/325031a0 · Cited by 3,100
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
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Cited by
Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies
Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633
Leber hereditary optic neuropathy
Man, P. Y. W., Turnbull, D. M., & Chinnery, P. F. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.162 · Cited by 520
Brown, M. D., Torroni, A., Reckord, C. L., & Wallace, D. C. (1995) · Human Mutation · doi:10.1002/humu.1380060405 · Cited by 256
Mouse mtDNA mutant model of Leber hereditary optic neuropathy
Lin, C. S., Sharpley, M. S., Fan, W., Waymire, K. G., Sadun, A. A., Carelli, V., Ross-Cisneros, F. N., Baciu, P., Sung, E., McManus, M. J., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217113109 · Cited by 228
Bonnet, C., Augustin, S., Ellouze, S., Bénit, P., Bouaita, A., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.04.018 · Cited by 130
Mitochondrial DNA mutations in the pathogenesis of human disease
Chinnery, P. F., & Turnbull, D. M. (2000) · Molecular Medicine Today · doi:10.1016/s1357-4310(00)01805-0 · Cited by 75
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process
Danielson, S. R., Carelli, V., Tan, G., Martinuzzi, A., Schapira, A. H. V., Savontaus, M.-L., & Cortopassi, G. A. (2005) · Brain · doi:10.1093/brain/awh447 · Cited by 48
The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics
Saravanan, S., Lewis, C. J., Dixit, B., O’Connor, M. S., Stolzing, A., & Boominathan, A. (2022) · Biomedicines · doi:10.3390/biomedicines10020490 · Cited by 13
Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy
Yu, H., Sant, D. W., Wang, G., & Guy, J. (2020) · Translational Vision Science & Technology · doi:10.1167/tvst.9.11.1 · Cited by 13
Metadata
- Authors
- Johns, D. R., Neufeld, M. J., & Park, R. D.
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1992-09
- Volume
- 187
- Issue
- 3
- Pages
- 1551-1557
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W1980681204
- Cited by
- 347
- References
- 3
- FWCI
- 5.34
- Type
- journal article
- Language
- en
- Open access
- hybrid
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