Cited by 3,060Mitochondrial Function and PathologyMetabolism and Genetic DisordersAutophagy in Disease and Therapy

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Mitochondrial Diseases in Man and Mouse

Wallace, Douglas C.·1999·Science

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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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Authors: Wallace, D. C.
Affiliations: Emory University (US)
Corresponding author: Wallace, Douglas C.
ORCID: Wallace, Douglas C.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1999-03-05
Volume: 283
Issue: 5407
Pages: 1482-1488
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.283.5407.1482
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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Mitochondrial Diseases in Man and Mouse

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