| Title |
Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms
|
|---|---|
| Published in |
Diabetologia, August 2013
|
| DOI | 10.1007/s00125-013-3029-3 |
| Pubmed ID | |
| Authors |
M. F. Michelle Sim, M. Mesbah Uddin Talukder, Rowena J. Dennis, Stephen O’Rahilly, J. Michael Edwardson, Justin J. Rochford |
| Abstract |
In humans, disruption of the gene BSCL2, encoding the protein seipin, causes congenital generalised lipodystrophy (CGL) with severe insulin resistance and dyslipidaemia. While the causative gene has been known for over a decade, the molecular functions of seipin are only now being uncovered. Most pathogenic mutations in BSCL2 represent substantial disruptions including significant deletions and frameshifts. However, several more subtle mutations have been reported that cause premature stop codons or single amino acid substitutions. Here we have examined these mutant forms of seipin to gain insight into how they may cause CGL. |
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 % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Unknown | 40 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 24% |
| Student > Ph. D. Student | 8 | 20% |
| Student > Master | 4 | 10% |
| Other | 4 | 10% |
| Professor > Associate Professor | 3 | 7% |
| Other | 9 | 22% |
| Unknown | 3 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 14 | 34% |
| Agricultural and Biological Sciences | 9 | 22% |
| Medicine and Dentistry | 7 | 17% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
| Business, Management and Accounting | 1 | 2% |
| Other | 6 | 15% |
| Unknown | 3 | 7% |
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 August 2013.
All research outputs
#18,345,822
of 22,719,618 outputs
Outputs from Diabetologia
#4,671
of 5,030 outputs
Outputs of similar age
#149,048
of 199,368 outputs
Outputs of similar age from Diabetologia
#44
of 50 outputs
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