Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model

Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism. Depletion of GCase, typically by homozygous mutations in GBA1, is linked to the l...

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Detalles Bibliográficos
Autores principales: Polinski, Nicole K., Martinez, Terina N., Gorodinsky, Alexander, Gareus, Ralph, Sasner, Michael, Herberth, Mark, Switzer, Robert, Ahmad, Syed O., Cosden, Mali, Kandebo, Monika, Drolet, Robert E., Buckett, Peter D., Shan, Weisong, Chen, Yi, Pellegrino, Lee J., Ellsworth, Gregory D., Dungan, Leo B., Hirst, Warren D., Clark, Sean W., Dave, Kuldip D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8189458/
https://www.ncbi.nlm.nih.gov/pubmed/34106956
http://dx.doi.org/10.1371/journal.pone.0252325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8189458/
https://www.ncbi.nlm.nih.gov/pubmed/34106956
http://dx.doi.org/10.1371/journal.pone.0252325

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