| Title |
Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells
|
|---|---|
| Published in |
Molecular Neurobiology, May 2017
|
| DOI | 10.1007/s12035-017-0477-7 |
| Pubmed ID | |
| Authors |
Kalina Wiatr, Wojciech J. Szlachcic, Marta Trzeciak, Marek Figlerowicz, Maciej Figiel |
| Abstract |
Huntington disease (HD) is a dominantly inherited disorder caused by a CAG expansion mutation in the huntingtin (HTT) gene, which results in the HTT protein that contains an expanded polyglutamine tract. The adult form of HD exhibits a late onset of the fully symptomatic phase. However, there is also a long presymptomatic phase, which has been increasingly investigated and recognized as important for the disease development. Moreover, the juvenile form of HD, evoked by a higher number of CAG repeats, resembles a neurodevelopmental disorder and has recently been the focus of additional interest. Multiple lines of data, such as the developmental necessity of HTT, its role in the cell cycle and neurogenesis, and findings from pluripotent stem cells, suggest the existence of a neurodevelopmental component in HD pathogenesis. Therefore, we discuss the early molecular pathogenesis of HD in pluripotent and neural stem cells, with respect to the neurodevelopmental aspects of HD. |
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 % |
|---|---|---|
| Argentina | 1 | 20% |
| United Kingdom | 1 | 20% |
| United States | 1 | 20% |
| Unknown | 2 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 60% |
| Scientists | 1 | 20% |
| Science communicators (journalists, bloggers, editors) | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 131 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 131 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 24 | 18% |
| Student > Bachelor | 24 | 18% |
| Student > Master | 20 | 15% |
| Researcher | 15 | 11% |
| Student > Postgraduate | 8 | 6% |
| Other | 11 | 8% |
| Unknown | 29 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 31 | 24% |
| Neuroscience | 27 | 21% |
| Agricultural and Biological Sciences | 22 | 17% |
| Medicine and Dentistry | 7 | 5% |
| Engineering | 3 | 2% |
| Other | 9 | 7% |
| Unknown | 32 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 06 February 2019.
All research outputs
#13,317,733
of 22,971,207 outputs
Outputs from Molecular Neurobiology
#1,664
of 3,478 outputs
Outputs of similar age
#154,209
of 310,860 outputs
Outputs of similar age from Molecular Neurobiology
#46
of 124 outputs
Altmetric has tracked 22,971,207 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,478 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has gotten more attention than average, scoring higher than 51% of its peers.
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We're also able to compare this research output to 124 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 62% of its contemporaries.