| Title |
Potential use of stem cells as a therapy for cystinosis
|
|---|---|
| Published in |
Pediatric Nephrology, May 2018
|
| DOI | 10.1007/s00467-018-3974-7 |
| Pubmed ID | |
| Authors |
Celine J. Rocca, Stephanie Cherqui |
| Abstract |
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders (LSDs). Initial symptoms of cystinosis correspond to the renal Fanconi syndrome. Patients then develop chronic kidney disease and multi-organ failure due to accumulation of cystine in all tissue compartments. LSDs are commonly characterized by a defective activity of lysosomal enzymes. Hematopoietic stem and progenitor cell (HSPC) transplantation is a treatment option for several LSDs based on the premise that their progeny will integrate in the affected tissues and secrete the functional enzyme, which will be recaptured by the surrounding deficient cells and restore physiological activity. However, in the case of cystinosis, the defective protein is a transmembrane lysosomal protein, cystinosin. Thus, cystinosin cannot be secreted, and yet, we showed that HSPC transplantation can rescue disease phenotype in the mouse model of cystinosis. In this review, we are describing a different mechanism by which HSPC-derived cells provide cystinosin to diseased cells within tissues, and how HSPC transplantation could be an effective one-time treatment to treat cystinosis but also other LSDs associated with a lysosomal transmembrane protein dysfunction. |
X Demographics
The data shown below were collected from the profiles of 8 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 13% |
| United States | 1 | 13% |
| Unknown | 6 | 75% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 50% |
| Science communicators (journalists, bloggers, editors) | 2 | 25% |
| Practitioners (doctors, other healthcare professionals) | 1 | 13% |
| Scientists | 1 | 13% |
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 % |
|---|---|---|
| Student > Bachelor | 7 | 16% |
| Student > Master | 7 | 16% |
| Researcher | 5 | 12% |
| Student > Ph. D. Student | 4 | 9% |
| Other | 3 | 7% |
| Other | 5 | 12% |
| Unknown | 12 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 21% |
| Biochemistry, Genetics and Molecular Biology | 6 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 4 | 9% |
| Agricultural and Biological Sciences | 3 | 7% |
| Nursing and Health Professions | 2 | 5% |
| Other | 7 | 16% |
| Unknown | 12 | 28% |
Attention Score in Context
This research output has an Altmetric Attention Score of 11. 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 11 January 2023.
All research outputs
#2,914,850
of 23,510,717 outputs
Outputs from Pediatric Nephrology
#373
of 3,657 outputs
Outputs of similar age
#60,813
of 331,138 outputs
Outputs of similar age from Pediatric Nephrology
#14
of 52 outputs
Altmetric has tracked 23,510,717 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,657 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.0. This one has done well, scoring higher than 89% 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 331,138 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 81% of its contemporaries.
We're also able to compare this research output to 52 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 73% of its contemporaries.