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Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy
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Mutant versions of the ND4 and ND6 genes have been expressed using mitochondria-targeted AAV to induce LHON phenotypes in mouse models.
“Similarly, mutant versions of the ND4 and ND6 genes have been expressed using mitochondria-targeted AAV, to induce LHON phenotypes in mouse models [151,165,166,168].”
From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [168]
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Local translation of extranuclear lamin B promotes axon maintenance
Yoon, B. C., Jung, H., Dwivedy, A., O'Hare, C. M., Zivraj, K. H., & Holt, C. E. (2012) · Cell · doi:10.1016/j.cell.2011.11.064 · Cited by 263
Cwerman-Thibault, H., Augustin, S., Lechauve, C., Ayache, J., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2015) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2015.3 · Cited by 86 · cited 1×
“17,18 We, two groups, rescued rodent models with injections of adeno-associated viruses (AAVs) containing wild-type human ND4.”
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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
Metadata
- Authors
- Yu, H., Sant, D. W., Wang, G., & Guy, J.
- Affiliations
- Bascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL, United States
- Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States
- John P. Hussman Institute for Human Genomics, Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, United States
- Venue
- Translational Vision Science & Technology
- Published
- 2020-10-01
- Volume
- 9
- Issue
- 11
- Pages
- 1
- ISSN
- 2164-2591
- PMC
- PMC7545076
- Cited by
- 13
- References
- 3
- Language
- en
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