| Title |
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations
|
|---|---|
| Published in |
Cellular and Molecular Life Sciences, October 2010
|
| DOI | 10.1007/s00018-010-0530-4 |
| Pubmed ID | |
| Authors |
Jeffrey D. Stumpf, William C. Copeland |
| Abstract |
DNA polymerase γ (pol γ), encoded by POLG, is responsible for replicating human mitochondrial DNA. About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. Because many of the mutations are described in single citations with no genotypic family history, it is important to ascertain which mutations cause or contribute to mitochondrial disease. The vast majority of data about POLG mutations has been generated from biochemical characterizations of recombinant pol γ. However, recently, the study of mitochondrial dysfunction in Saccharomyces cerevisiae and mouse models provides important in vivo evidence for the role of POLG mutations in disease. Also, the published 3D-structure of the human pol γ assists in explaining some of the biochemical and genetic properties of the mutants. This review summarizes the current evidence that identifies and explains disease-causing POLG mutations. |
Mendeley readers
The data shown below were compiled from readership statistics for 204 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 2 | <1% |
| Netherlands | 1 | <1% |
| France | 1 | <1% |
| United Kingdom | 1 | <1% |
| Slovakia | 1 | <1% |
| Iran, Islamic Republic of | 1 | <1% |
| Greece | 1 | <1% |
| United States | 1 | <1% |
| Unknown | 195 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 52 | 25% |
| Researcher | 47 | 23% |
| Student > Master | 23 | 11% |
| Student > Bachelor | 17 | 8% |
| Professor | 10 | 5% |
| Other | 31 | 15% |
| Unknown | 24 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 79 | 39% |
| Biochemistry, Genetics and Molecular Biology | 45 | 22% |
| Medicine and Dentistry | 21 | 10% |
| Neuroscience | 6 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 5 | 2% |
| Other | 19 | 9% |
| Unknown | 29 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 April 2021.
All research outputs
#3,460,684
of 23,794,258 outputs
Outputs from Cellular and Molecular Life Sciences
#571
of 4,151 outputs
Outputs of similar age
#13,948
of 101,383 outputs
Outputs of similar age from Cellular and Molecular Life Sciences
#2
of 23 outputs
Altmetric has tracked 23,794,258 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,151 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one has done well, scoring higher than 88% of its peers.
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We're also able to compare this research output to 23 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.