| Title |
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia
|
|---|---|
| Published in |
Cellular and Molecular Life Sciences, November 2017
|
| DOI | 10.1007/s00018-017-2704-9 |
| Pubmed ID | |
| Authors |
Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke, Anna Boccaccio |
| Abstract |
Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We show here that human TMEM16E, when overexpressed in mammalian cell lines, displayed partial plasma membrane localization and gave rise to phospholipid scrambling (PLS) as well as non-selective ionic currents with slow time-dependent activation at highly depolarized membrane potentials. While the activity of wild-type TMEM16E depended on elevated cytosolic Ca(2+) levels, a mutant form carrying the GDD-causing T513I substitution showed PLS and large time-dependent ion currents even at low cytosolic Ca(2+) concentrations. Contrarily, mutation of the homologous position in the Ca(2+)-activated Cl(-) channel TMEM16B paralog hardly affected its function. In summary, these data provide the first direct demonstration of Ca(2+)-dependent PLS activity for TMEM16E and suggest a gain-of-function phenotype related to a GDD mutation. |
X Demographics
The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 20% |
| Netherlands | 1 | 20% |
| Denmark | 1 | 20% |
| Unknown | 2 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 80% |
| Scientists | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 26 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 5 | 19% |
| Professor | 3 | 12% |
| Student > Ph. D. Student | 3 | 12% |
| Student > Postgraduate | 2 | 8% |
| Student > Master | 2 | 8% |
| Other | 4 | 15% |
| Unknown | 7 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 27% |
| Agricultural and Biological Sciences | 6 | 23% |
| Medicine and Dentistry | 3 | 12% |
| Nursing and Health Professions | 1 | 4% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 7 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 28 February 2021.
All research outputs
#6,703,346
of 23,794,258 outputs
Outputs from Cellular and Molecular Life Sciences
#1,448
of 4,151 outputs
Outputs of similar age
#108,669
of 332,962 outputs
Outputs of similar age from Cellular and Molecular Life Sciences
#25
of 54 outputs
Altmetric has tracked 23,794,258 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
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 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 332,962 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 54 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 51% of its contemporaries.