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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, June 2016
|
| DOI | 10.1186/s13023-016-0466-3 |
| Pubmed ID | |
| Authors |
Urszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, Quinlan Wylie, Skye McBride, Matthew Lines, Jean Michaud, Stephen D. Baird, Pranesh K. Chakraborty, Martin Holcik |
| Abstract |
SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, and developmental delay caused by mutations in the CCA-adding enzyme TRNT1, but the precise molecular pathophysiology is not known. We show that the disease causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. Analysis of cellular respiration and oxidative phosphorylation (OXPHOS) complexes demonstrates that both basal and maximal respiration rates are decreased in patient cells, which may be attributed to an observed decrease in the abundance of select proteins of the OXPHOS complexes. Our data provides further insight into cellular pathophysiology of SIFD. |
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 % |
|---|---|---|
| Canada | 4 | 40% |
| United Kingdom | 2 | 20% |
| Unknown | 4 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 6 | 60% |
| Scientists | 2 | 20% |
| Science communicators (journalists, bloggers, editors) | 1 | 10% |
| Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 23% |
| Researcher | 4 | 18% |
| Student > Ph. D. Student | 3 | 14% |
| Student > Postgraduate | 2 | 9% |
| Professor > Associate Professor | 2 | 9% |
| Other | 2 | 9% |
| Unknown | 4 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 27% |
| Medicine and Dentistry | 5 | 23% |
| Neuroscience | 2 | 9% |
| Immunology and Microbiology | 2 | 9% |
| Agricultural and Biological Sciences | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 5 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 26 June 2017.
All research outputs
#5,206,183
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#729
of 3,105 outputs
Outputs of similar age
#86,946
of 369,564 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#11
of 57 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done well, scoring higher than 76% 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 369,564 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.