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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
|
|---|---|
| Published in |
Brain, December 2015
|
| DOI | 10.1093/brain/awv350 |
| Pubmed ID | |
| Authors |
Eliska Holzerova, Katharina Danhauser, Tobias B Haack, Laura S Kremer, Marlen Melcher, Irina Ingold, Sho Kobayashi, Caterina Terrile, Petra Wolf, Jörg Schaper, Ertan Mayatepek, Fabian Baertling, José Pedro Friedmann Angeli, Marcus Conrad, Tim M Strom, Thomas Meitinger, Holger Prokisch, Felix Distelmaier |
| Abstract |
Thioredoxin 2 (TXN2; also known as Trx2) is a small mitochondrial redox protein essential for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Exome sequencing in a 16-year-old adolescent suffering from an infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy, uncovered a homozygous stop mutation in TXN2. Analysis of patient-derived fibroblasts demonstrated absence of TXN2 protein, increased reactive oxygen species levels, impaired oxidative stress defence and oxidative phosphorylation dysfunction. Reconstitution of TXN2 expression restored all these parameters, indicating the causal role of TXN2 mutation in disease development. Supplementation with antioxidants effectively suppressed cellular reactive oxygen species production, improved cell viability and mitigated clinical symptoms during short-term follow-up. In conclusion, our report on a patient with TXN2 deficiency suggests an important role of reactive oxygen species homeostasis for human neuronal maintenance and energy metabolism. |
X Demographics
The data shown below were collected from the profiles of 10 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 4 | 40% |
| United States | 2 | 20% |
| Unknown | 4 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 6 | 60% |
| Science communicators (journalists, bloggers, editors) | 4 | 40% |
Mendeley readers
The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 1% |
| Unknown | 75 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 21 | 28% |
| Researcher | 10 | 13% |
| Student > Bachelor | 7 | 9% |
| Other | 7 | 9% |
| Student > Master | 5 | 7% |
| Other | 12 | 16% |
| Unknown | 14 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 24 | 32% |
| Medicine and Dentistry | 8 | 11% |
| Agricultural and Biological Sciences | 6 | 8% |
| Neuroscience | 4 | 5% |
| Immunology and Microbiology | 3 | 4% |
| Other | 13 | 17% |
| Unknown | 18 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 18. 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 27 June 2018.
All research outputs
#2,039,785
of 25,377,790 outputs
Outputs from Brain
#2,185
of 7,625 outputs
Outputs of similar age
#33,250
of 395,418 outputs
Outputs of similar age from Brain
#29
of 88 outputs
Altmetric has tracked 25,377,790 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,625 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 27.7. This one has gotten more attention than average, scoring higher than 71% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 395,418 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 88 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.