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Mendeley readers
Attention Score in Context
| Title |
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B
|
|---|---|
| Published in |
European Journal of Human Genetics, April 2015
|
| DOI | 10.1038/ejhg.2015.89 |
| Pubmed ID | |
| Authors |
Mariana Acuña, Pablo Martínez, Carol Moraga, Xingxuan He, Mauricio Moraga, Bessie Hunter, Peter Nuernberg, Rodrigo A Gutiérrez, Mauricio González, Edward H Schuchman, José Luis Santos, Juan Francisco Miquel, Paulina Mabe, Silvana Zanlungo |
| Abstract |
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. While numerous variants causing NPDB have been described, only a small number have been studied in any detail. Herein, we describe the frequency of the p.(Ala359Asp) variant in the healthy Chilean population, and determine the haplotype background of homozygous patients to establish if this variant originated from a common founder. Genomic DNA samples from 1691 healthy individuals were analyzed for the p.(Ala359Asp) variant. The frequency of p.(Ala359Asp) was found to be 1/105.7, predicting a disease incidence of 1/44 960 in Chile, higher than the incidence estimated by the number of confirmed NPDB cases. We also describe the clinical characteristics of 13 patients homozygous for p.(Ala359Asp) and all of them had moderate to severe NPDB disease. In addition, a conserved haplotype and shared 280 Kb region around the SMPD1 gene was observed in the patients analyzed, indicating that the variant originated from a common ancestor. The haplotype frequency and mitochondrial DNA analysis suggest an Amerindian origin for the variant. To assess the effect of the p.(Ala359Asp) variant, we transfected cells with the ASM-p.(Ala359Asp) cDNA and the activity was only 4.2% compared with the wild-type cDNA, definitively demonstrating the causative effect of the variant on ASM function. Information on common variants such as p.(Ala359Asp) is essential to guide the successful implementation for future therapies and benefit to patients.European Journal of Human Genetics advance online publication, 29 April 2015; doi:10.1038/ejhg.2015.89. |
Mendeley readers
The data shown below were compiled from readership statistics for 43 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 43 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 23% |
| Student > Bachelor | 7 | 16% |
| Other | 4 | 9% |
| Student > Ph. D. Student | 4 | 9% |
| Student > Master | 2 | 5% |
| Other | 5 | 12% |
| Unknown | 11 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 16% |
| Medicine and Dentistry | 6 | 14% |
| Agricultural and Biological Sciences | 6 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 7% |
| Economics, Econometrics and Finance | 2 | 5% |
| Other | 5 | 12% |
| Unknown | 14 | 33% |
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 29 April 2015.
All research outputs
#4,173,376
of 22,800,560 outputs
Outputs from European Journal of Human Genetics
#1,084
of 3,432 outputs
Outputs of similar age
#53,224
of 264,547 outputs
Outputs of similar age from European Journal of Human Genetics
#72
of 82 outputs
Altmetric has tracked 22,800,560 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,432 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one has gotten more attention than average, scoring higher than 65% of its peers.
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 264,547 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 78% of its contemporaries.
We're also able to compare this research output to 82 others from the same source and published within six weeks on either side of this one. This one is in the 2nd percentile – i.e., 2% of its contemporaries scored the same or lower than it.