Title |
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, September 2013
|
DOI | 10.1186/1750-1172-8-151 |
Pubmed ID | |
Authors |
Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C Gonzalez, Markus M Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen |
Abstract |
Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 25% |
Mexico | 1 | 25% |
Spain | 1 | 25% |
Unknown | 1 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 50% |
Scientists | 2 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
Unknown | 57 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 19 | 33% |
Researcher | 10 | 17% |
Student > Master | 6 | 10% |
Student > Postgraduate | 4 | 7% |
Student > Bachelor | 4 | 7% |
Other | 6 | 10% |
Unknown | 9 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 16 | 28% |
Biochemistry, Genetics and Molecular Biology | 15 | 26% |
Medicine and Dentistry | 7 | 12% |
Engineering | 3 | 5% |
Chemistry | 3 | 5% |
Other | 4 | 7% |
Unknown | 10 | 17% |