| Title |
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
|
|---|---|
| Published in |
neurogenetics, November 2015
|
| DOI | 10.1007/s10048-015-0464-y |
| Pubmed ID | |
| Authors |
Simon Edvardson, Haibo Wang, Talya Dor, Osamah Atawneh, Barak Yaacov, Jutta Gartner, Yuval Cinnamon, Songhai Chen, Orly Elpeleg |
| Abstract |
Rearrangement of the actin cytoskeleton is controlled by RhoGTPases which are activated by RhoGEFs. We identified homozygosity for Arg204Trp mutation in the Rho guanidine exchange factor (RhoGEF) PLEKHG2 gene in five patients with profound mental retardation, dystonia, postnatal microcephaly, and distinct neuroimaging pattern. The activity of the mutant PLEKHG2 was significantly decreased, both in basal state and when Gβγ- or lysophosphatidic acid (LPA)-stimulated. SDF1a-stimulated actin polymerization was significantly impaired in patient cells, and this abnormality was duplicated in control cells when PLEKHG2 expression was downregulated. These results underscore the role of PLEKHG2 in actin polymerization and delineate the clinical and radiological findings in PLEKHG2 deficiency. |
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 States | 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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 16 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 25% |
| Student > Master | 3 | 19% |
| Student > Ph. D. Student | 2 | 13% |
| Other | 1 | 6% |
| Lecturer | 1 | 6% |
| Other | 2 | 13% |
| Unknown | 3 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 31% |
| Biochemistry, Genetics and Molecular Biology | 4 | 25% |
| Agricultural and Biological Sciences | 2 | 13% |
| Nursing and Health Professions | 1 | 6% |
| Psychology | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 2 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 19 November 2015.
All research outputs
#20,296,405
of 22,833,393 outputs
Outputs from neurogenetics
#340
of 376 outputs
Outputs of similar age
#323,625
of 386,426 outputs
Outputs of similar age from neurogenetics
#3
of 6 outputs
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