Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations

The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjögren–like syndrome. H...

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Pubblicato in:J Biol Chem
Autori principali: Woeste, Marina A., Stern, Sina, Raju, Diana N., Grahn, Elena, Dittmann, Dominik, Gutbrod, Katharina, Dörmann, Peter, Hansen, Jan N., Schonauer, Sophie, Marx, Carina E., Hamzeh, Hussein, Körschen, Heinz G., Aerts, Johannes M. F. G., Bönigk, Wolfgang, Endepols, Heike, Sandhoff, Roger, Geyer, Matthias, Berger, Thomas K., Bradke, Frank, Wachten, Dagmar
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2019
Soggetti:
Molecular Bases of Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6422076/
https://ncbi.nlm.nih.gov/pubmed/30662006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006311
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