Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease

The lysosomal acid β-glucosidase GBA1 and the non-lysosomal β-glucosidase GBA2 degrade glucosylceramide (GlcCer) to glucose and ceramide in different cellular compartments. Loss of GBA2 activity and the resulting accumulation of GlcCer results in male infertility, whereas mutations in the GBA1 gene...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Schonauer, Sophie, Körschen, Heinz G., Penno, Anke, Rennhack, Andreas, Breiden, Bernadette, Sandhoff, Konrad, Gutbrod, Katharina, Dörmann, Peter, Raju, Diana N., Haberkant, Per, Gerl, Mathias J., Brügger, Britta, Zigdon, Hila, Vardi, Ayelet, Futerman, Anthony H., Thiele, Christoph, Wachten, Dagmar
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Lipids
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391749/
https://ncbi.nlm.nih.gov/pubmed/28258214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.762831
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