| Title |
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation
|
|---|---|
| Published in |
neurogenetics, July 2008
|
| DOI | 10.1007/s10048-008-0128-2 |
| Pubmed ID | |
| Authors |
Joseph J. Higgins, Jin Hao, Barry E. Kosofsky, Anjali M. Rajadhyaksha |
| Abstract |
A nonsense mutation (R419X) in the human cereblon gene [mutation (mut) CRBN] causes a mild type of autosomal recessive nonsyndromal mental retardation (ARNSMR). CRBN, a cytosolic protein, regulates the assembly and neuronal surface expression of large-conductance Ca(2+)-activated K(+) channels (BK(Ca)) in brain regions involved in memory and learning. Using the real-time quantitative polymerase chain reaction, we show that mut CRBN disturbs the development of adult brain BK(Ca) isoforms. These changes are predicted to result in BK(Ca) channels with a higher intracellular Ca(2+) sensitivity, faster activation, and slower deactivation kinetics. Such alterations may contribute to cognitive impairments in patients with mild ARNSMR. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| United States | 1 | 1% |
| France | 1 | 1% |
| Brazil | 1 | 1% |
| Unknown | 64 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 19 | 28% |
| Researcher | 10 | 15% |
| Student > Bachelor | 9 | 13% |
| Student > Master | 4 | 6% |
| Professor | 3 | 4% |
| Other | 9 | 13% |
| Unknown | 14 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 18 | 26% |
| Biochemistry, Genetics and Molecular Biology | 13 | 19% |
| Medicine and Dentistry | 10 | 15% |
| Neuroscience | 6 | 9% |
| Psychology | 3 | 4% |
| Other | 3 | 4% |
| Unknown | 15 | 22% |
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 22 August 2023.
All research outputs
#4,641,151
of 23,151,189 outputs
Outputs from neurogenetics
#54
of 381 outputs
Outputs of similar age
#15,345
of 82,411 outputs
Outputs of similar age from neurogenetics
#2
of 7 outputs
Altmetric has tracked 23,151,189 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 381 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 85% of its peers.
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We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.