| Title |
Modeling simple repeat expansion diseases with iPSC technology
|
|---|---|
| Published in |
Cellular and Molecular Life Sciences, June 2016
|
| DOI | 10.1007/s00018-016-2284-0 |
| Pubmed ID | |
| Authors |
Edyta Jaworska, Emilia Kozlowska, Pawel M. Switonski, Wlodzimierz J. Krzyzosiak |
| Abstract |
A number of human genetic disorders, including Huntington's disease, myotonic dystrophy type 1, C9ORF72 form of amyotrophic lateral sclerosis and several spinocerebellar ataxias, are caused by the expansion of various microsatellite sequences in single implicated genes. The neurodegenerative and neuromuscular nature of the repeat expansion disorders considerably limits the access of researchers to appropriate cellular models of these diseases. This limitation, however, can be overcome by the application of induced pluripotent stem cell (iPSC) technology. In this paper, we review the current knowledge on the modeling of repeat expansion diseases with human iPSCs and iPSC-derived cells, focusing on the disease phenotypes recapitulated in these models. In subsequent sections, we provide basic practical knowledge regarding iPSC generation, characterization and differentiation into neurons. We also cover disease modeling in iPSCs, neuronal stem cells and specialized neuronal cultures. Furthermore, we also summarize the therapeutic potential of iPSC technology in repeat expansion diseases. |
X Demographics
The data shown below were collected from the profiles of 4 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 States | 1 | 25% |
| Unknown | 3 | 75% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Science communicators (journalists, bloggers, editors) | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 85 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 1% |
| United States | 1 | 1% |
| Unknown | 83 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 20 | 24% |
| Researcher | 13 | 15% |
| Student > Postgraduate | 6 | 7% |
| Student > Bachelor | 6 | 7% |
| Professor | 5 | 6% |
| Other | 16 | 19% |
| Unknown | 19 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 20 | 24% |
| Biochemistry, Genetics and Molecular Biology | 18 | 21% |
| Medicine and Dentistry | 10 | 12% |
| Neuroscience | 9 | 11% |
| Economics, Econometrics and Finance | 1 | 1% |
| Other | 6 | 7% |
| Unknown | 21 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. 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 July 2023.
All research outputs
#1,738,645
of 24,257,963 outputs
Outputs from Cellular and Molecular Life Sciences
#192
of 5,580 outputs
Outputs of similar age
#31,720
of 345,049 outputs
Outputs of similar age from Cellular and Molecular Life Sciences
#5
of 68 outputs
Altmetric has tracked 24,257,963 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,580 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one has done particularly well, scoring higher than 96% of its peers.
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We're also able to compare this research output to 68 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.