Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

BACKGROUND: 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 G...

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Detalles Bibliográficos
Autores principales: Yildiz, Yildiz, Hoffmann, Per, vom Dahl, Stefan, Breiden, Bernadette, Sandhoff, Roger, Niederau, Claus, Horwitz, Mia, Karlsson, Stefan, Filocamo, Mirella, Elstein, Deborah, Beck, Michael, Sandhoff, Konrad, Mengel, Eugen, Gonzalez, Maria C, Nöthen, Markus M, Sidransky, Ellen, Zimran, Ari, Mattheisen, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850879/
https://www.ncbi.nlm.nih.gov/pubmed/24070122
http://dx.doi.org/10.1186/1750-1172-8-151

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