Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model

Defective lysosomal acid β-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) that distress cellular functions. To study novel pathological mechanisms in neuronopathic Gaucher disease (nGD), a mouse model (4L;C*), an analogue to subacute...

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Udgivet i:Hum Mol Genet
Main Authors: Dasgupta, Nupur, Xu, You-hai, Li, Ronghua, Peng, Yanyan, Pandey, Manoj K., Tinch, Stuart L., Liou, Benjamin, Inskeep, Venette, Zhang, Wujuan, Setchell, Kenneth D.R., Keddache, Mehdi, Grabowski, Gregory A., Sun, Ying
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654057/
https://ncbi.nlm.nih.gov/pubmed/26420838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv404
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