Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease

Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The build-up of glucosylceramide in the endoplasmic reticulum and prominent accumulation in cell lys...

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Bibliografski detalji
Izdano u:Int J Mol Sci
Glavni autori: Lukas, Jan, Cozma, Claudia, Yang, Fan, Kramp, Guido, Meyer, Anja, Neßlauer, Anna-Maria, Eichler, Sabrina, Böttcher, Tobias, Witt, Martin, Bräuer, Anja U., Kropp, Peter, Rolfs, Arndt
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2017
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5666873/
https://ncbi.nlm.nih.gov/pubmed/29053611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18102192
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