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

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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Autores principales: Nicole K Polinski, Terina N Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Mali Cosden, Monika Kandebo, Robert E Drolet, Peter D Buckett, Weisong Shan, Yi Chen, Lee J Pellegrino, Gregory D Ellsworth, Leo B Dungan, Warren D Hirst, Sean W Clark, Kuldip D Dave
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
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Medicine
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Science
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Acceso en línea:https://doaj.org/article/294b88f9cc54498d84ccf437a6bd2775
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https://doaj.org/article/294b88f9cc54498d84ccf437a6bd2775

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