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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Research Article
Acesso em linha: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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