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Cited by 302

The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.

Mitochondrial DNA and disease

Open access
Greaves, Laura C, Reeve, Amy K, Taylor, Robert W, Turnbull, Doug M·2012·The Journal of Pathology

Abstract

Mitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS). Similar OXPHOS defects have been shown to be present in a number of neurodegenerative conditions, including Parkinson's disease, as well as in normal ageing human tissues. Additionally, a number of tumours have been shown to contain mtDNA mutations and an altered metabolic phenotype. In this review we outline the unique characteristics of mitochondrial genetics before detailing important pathological features of mtDNA diseases, focusing on adult neurological disease as well as the role of mtDNA mutations in neurodegenerative diseases, ageing and cancer. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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Crossref · 10.1002/path.3028

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Metadata

Authors
Greaves, L. C., Reeve, A. K., Taylor, R. W., & Turnbull, D. M.
Venue
The Journal of Pathology
Publisher
Wiley
Published
2011-11-21
Volume
226
Issue
2
Pages
274-286
ISSN
  • 0022-3417 (ISSN-L)
  • 1096-9896
OpenAlex
W1976277034
Cited by
302
References
20
FWCI
9.05
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Mitochondrial DNA and disease. https://app.cochat.ai/papers/10.1002/path.3028
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Greaves, L. C., Reeve, A. K., Taylor, R. W., & Turnbull, D. M. (2012). Mitochondrial DNA and disease. The Journal of Pathology. https://doi.org/10.1002/path.3028

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.