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Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Deficiencies of lysosomal β-D-galactosidase can result in GM1 gangliosidosis, a severe neurodegenerative disease characterized by massive neuronal storage of GM1 ganglioside in the brain. Currently there are no available therapies that can even slow the progression of this disease. Enzyme enhancemen...

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Hlavní autoři: Rigat, Brigitte A., Tropak, Michael B., Buttner, Justin, Crushell, Ellen, Benedict, Daphne, Callahan, John W., Martin, Douglas R., Mahuran, Don J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4010500/
https://ncbi.nlm.nih.gov/pubmed/22784478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.06.007
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