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Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

Neuropathic Gaucher disease (nGD), also known as type 2 or type 3 Gaucher disease, is caused by a deficiency of the enzyme glucocerebrosidase (GC). This deficiency impairs the degradation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph), leading to their accumulation in the brains of pa...

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Detaylı Bibliyografya
Asıl Yazarlar: Cabrera-Salazar, Mario A., DeRiso, Matthew, Bercury, Scott D., Li, Lingyun, Lydon, John T., Weber, William, Pande, Nilesh, Cromwell, Mandy A., Copeland, Diane, Leonard, John, Cheng, Seng H., Scheule, Ronald K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2012
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3422338/
https://ncbi.nlm.nih.gov/pubmed/22912851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043310
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