| Title |
Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
|
|---|---|
| Published in |
neurogenetics, July 2004
|
| DOI | 10.1007/s10048-004-0182-3 |
| Pubmed ID | |
| Authors |
Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, Juliane Bitsch, Michael Zuker, Sibylla Hummel, Ulrich Müller |
| Abstract |
The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase (SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD). The mutation detected in SPR is a G-->A transition at position -13 of the untranslated region of the gene. This resulted in drastically reduced activity of sepiapterin reductase in the patient's fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD. |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 3% |
| Germany | 1 | 3% |
| Unknown | 27 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 28% |
| Student > Ph. D. Student | 4 | 14% |
| Professor | 3 | 10% |
| Other | 3 | 10% |
| Student > Doctoral Student | 2 | 7% |
| Other | 4 | 14% |
| Unknown | 5 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 24% |
| Agricultural and Biological Sciences | 7 | 24% |
| Medicine and Dentistry | 5 | 17% |
| Neuroscience | 4 | 14% |
| Unknown | 6 | 21% |
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 03 March 2015.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from neurogenetics
#116
of 376 outputs
Outputs of similar age
#18,647
of 54,016 outputs
Outputs of similar age from neurogenetics
#2
of 4 outputs
Altmetric has tracked 22,788,370 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 376 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 40th percentile – i.e., 40% of its peers scored the same or lower than it.
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 54,016 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.