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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes
|
|---|---|
| Published in |
Human Molecular Genetics, April 2012
|
| DOI | 10.1093/hmg/dds142 |
| Pubmed ID | |
| Authors |
Jack-Christophe Cossec, Jérémie Lavaur, Diego E. Berman, Isabelle Rivals, Alexander Hoischen, Samantha Stora, Clémentine Ripoll, Clotilde Mircher, Yann Grattau, Jean-Christophe OlivoMarin, Fabrice de Chaumont, Magalie Lecourtois, Stylianos E. Antonarakis, Joris A. Veltman, Jean M. Delabar, Charles Duyckaerts, Gilbert Di Paolo, Marie-Claude Potier |
| Abstract |
Enlarged early endosomes have been observed in neurons and fibroblasts in Down syndrome (DS). These endosome abnormalities have been implicated in the early development of Alzheimer's disease (AD) pathology in these subjects. Here, we show the presence of enlarged endosomes in blood mononuclear cells and lymphoblastoid cell lines (LCLs) from individuals with DS using immunofluorescence and confocal microscopy. Genotype-phenotype correlations in LCLs carrying partial trisomies 21 revealed that triplication of a 2.56 Mb locus in 21q22.11 is associated with the endosomal abnormalities. This locus contains the gene encoding the phosphoinositide phosphatase synaptojanin 1 (SYNJ1), a key regulator of the signalling phospholipid phosphatidylinositol-4,5-biphosphate that has been shown to regulate clathrin-mediated endocytosis. We found that SYNJ1 transcripts are increased in LCLs from individuals with DS and that overexpression of SYNJ1 in a neuroblastoma cell line as well as in transgenic mice leads to enlarged endosomes. Moreover, the proportion of enlarged endosomes in fibroblasts from an individual with DS was reduced after silencing SYNJ1 expression with RNA interference. In LCLs carrying amyloid precursor protein (APP) microduplications causing autosomal dominant early-onset AD, enlarged endosomes were absent, suggesting that APP overexpression alone is not involved in the modification of early endosomes in this cell type. These findings provide new insights into the contribution of SYNJ1 overexpression to the endosomal changes observed in DS and suggest an attractive new target for rescuing endocytic dysfunction and lipid metabolism in DS and in AD. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| France | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 99 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| United States | 1 | 1% |
| Germany | 1 | 1% |
| Belgium | 1 | 1% |
| Unknown | 95 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 21 | 21% |
| Student > Ph. D. Student | 20 | 20% |
| Student > Master | 12 | 12% |
| Student > Bachelor | 11 | 11% |
| Student > Doctoral Student | 6 | 6% |
| Other | 13 | 13% |
| Unknown | 16 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 28 | 28% |
| Neuroscience | 17 | 17% |
| Biochemistry, Genetics and Molecular Biology | 15 | 15% |
| Medicine and Dentistry | 13 | 13% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 3% |
| Other | 5 | 5% |
| Unknown | 18 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 31 July 2012.
All research outputs
#20,656,820
of 25,374,647 outputs
Outputs from Human Molecular Genetics
#7,583
of 8,251 outputs
Outputs of similar age
#136,625
of 174,790 outputs
Outputs of similar age from Human Molecular Genetics
#65
of 76 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,251 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 4th percentile – i.e., 4% of its peers scored the same or lower than it.
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We're also able to compare this research output to 76 others from the same source and published within six weeks on either side of this one. This one is in the 7th percentile – i.e., 7% of its contemporaries scored the same or lower than it.