The DOI matches its Crossref record; 88 of the 88 references it cites were found in a registry or an index.
Mitochondrial Diseases in Man and Mouse
Abstract
Over the past 10 years, mitochondrial defects have been implicated in a wide variety of degenerative diseases, aging, and cancer. Studies on patients with these diseases have revealed much about the complexities of mitochondrial genetics, which involves an interplay between mutations in the mitochondrial and nuclear genomes. However, the pathophysiology of mitochondrial diseases has remained perplexing. The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology. The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease.
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“Additionally, mtDNA point mutations and deletions can disrupt mitochondrial function if the percentage of mutant mtDNA per cell reaches a threshold where not enough functional mitochondria remain to maintain proper energetic function (Wallace, 1999).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Wallace, 1999
Citations
Cites
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Induction of Apoptotic Program in Cell-Free Extracts: Requirement for dATP and Cytochrome c
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Molecular characterization of mitochondrial apoptosis-inducing factor
Susin, S. A., Lorenzo, H. K., Zamzami, N., Marzo, I., Snow, B. E., Brothers, G. M., Mangion, J., Jacotot, E., Costantini, P., Loeffler, M., et al. (1999) · Nature · doi:10.1038/17135 · Cited by 4,060
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
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Self-citationThe mitochondrial permeability transition
Zoratti, M., & Szabó, I. (1995) · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes · doi:10.1016/0304-4157(95)00003-a · Cited by 2,410
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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
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Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase
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Self-citationThe genome sequence of Rickettsia prowazekii and the origin of mitochondria
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Research works printed but not linked: 18
- D. C. Wallace in (2) pp. 237–269.
- J. M. Shoffner and D. C. Wallace in The Metabolic and Molecular Basis of Inherited Disease C. R. Scriver A. L. Beaudet W. S. Sly D. Valle Eds. (McGraw-Hill New York 1995) pp. 1535–1609.
- Lang B. F., et al., ibid. 387, 493 (1997).
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- D. Murdock B. E. Boone L. Esposito D. C. Wallace J. Biol. Chem. in press.
- L. Esposito S. Melov A. Panov D. C. Wallace Proc. Natl. Acad. Sci. U.S.A. in press.
- Wang J., et al., ibid. 21, 133 (1999).
- ___, ibid. 145, 445 (1997).
- S. Levy K. Waymire G. MacGregor Y. Kim D. C. Wallace Transgenic Res. in press.
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Cited by
Sorted by citations
Querfurth, H. W., & LaFerla, F. M. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0909142 · Cited by 4,569
Wu, Z., Puigserver, P., Andersson, U., Zhang, C., Adelmant, G., Mootha, V., Troy, A., Cinti, S., Lowell, B., Scarpulla, R. C., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80611-x · Cited by 4,139
Wallace, D. C. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.110304.095751 · Cited by 3,185
Self-citationMitochondrial control of cell death
Kroemer, G., & Reed, J. C. (2000) · Nature Medicine · doi:10.1038/74994 · Cited by 3,103
St-Pierre, J., Drori, S., Uldry, M., Silvaggi, J. M., Rhee, J., Jäger, S., Handschin, C., Zheng, K., Lin, J., Yang, W., et al. (2006) · Cell · doi:10.1016/j.cell.2006.09.024 · Cited by 2,233
Metadata
- Authors
- Wallace, D. C.
- Affiliations
- Emory University (US)
- Corresponding author
- Wallace, Douglas C.
- ORCID
- Wallace, Douglas C.
- Venue
- Science
- Published
- 1999-03-05
- Volume
- 283
- Issue
- 5407
- Pages
- 1482-1488
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2044494908
- Cited by
- 3,060
- References
- 88
- Citations by year
- 2026: 45 · 2025: 57 · 2024: 60 · 2023: 52 · 2022: 61 · 2021: 82 · 2020: 59 · 2019: 76 · 2018: 71 · 2017: 82 · 2016: 93 · 2015: 106 · 2014: 116 · 2013: 123 · 2012: 148
- FWCI
- 12.30
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01hl045572-08)
- National Institute on Aging (AG-13154, R01AG013154)
- National Heart, Lung, and Blood Institute (HL45572)
- National Institute of Neurological Disorders and Stroke (NS-21328, R01NS021328)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Autophagy in Disease and Therapy
- Keywords
- mitochondrial disease, mitochondrial DNA mutations, oxidative phosphorylation, reactive oxygen species, apoptosis, degenerative diseases, aging, cancer, mitochondrial genetics
- MeSH terms
- Aging, Animals, DNA, Mitochondrial, Humans, Metabolic Diseases, Mitochondria, Mutation, Neoplasms, Oxidative Phosphorylation, Mitochondrial Myopathies, Mice
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