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Cited by 228

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

Lin, Chun Shi, Sharpley, Mark S., Fan, Weiwei, Waymire, Katrina G., Sadun, Alfredo A., Carelli, Valerio, Ross-Cisneros, Fred N., Baciu, Peter, Sung, Eric, McManus, Meagan J., Pan, Billy X., Gil, Daniel W., MacGregor, Grant R., Wallace, Douglas C.·2012·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.1217113109
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Abstract

An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination. Mitochondrial analysis revealed partial complex I and respiration defects and increased reactive oxygen species (ROS) production, whereas synaptosome analysis revealed decreased complex I activity and increased ROS but no diminution of ATP production. Thus, LHON pathophysiology may result from oxidative stress.

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Crossref · 10.1073/pnas.1217113109

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2 of 2 references verified0 citation errors · 0 not checkable

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  • Available systems for studying mitochondrial disease include naturally occurring mild mutations with less severe phenotypes, such as missense mutations in ATP8 and ND6.

    “Available systems therefore include the study of naturally occurring mild mutations with less severe phenotypes, such as those observed due to missense mutations in the ATP8 [149] and ND6 genes [150].”

    From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [150]

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Metadata

Authors
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., Pan, B. X., Gil, D. W., MacGregor, G. R., & Wallace, D. C.
Affiliations
  • Center for Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104;
  • Center for Molecular and Mitochondrial Medicine and Genetics and Department of Biological Chemistry, University of California, Irvine, CA 92697;
  • Departments of Ophthalmology and Neurological Surgery, Doheny Eye Institute, University of Southern California (USC) Keck School of Medicine, Los Angeles, CA 90089-0228;
  • Department of Biological Sciences, Allergan, Inc., Irvine, CA 92612; and
Venue
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Published
2012-11-05
Volume
109
Issue
49
Pages
20065-20070
ISSN
  • 0027-8424
  • 1091-6490
DOI
10.1073/pnas.1217113109
Cited by
228
References
2
Language
en

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