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Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin

Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the β-subunit of β-hexosaminidase. G(M2) ganglioside fails to be degraded and accumulates within lysosomes in cells of the periphery and the central nervou...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Jeyakumar, Mylvaganam, Butters, Terry D., Cortina-Borja, Mario, Hunnam, Victoria, Proia, Richard L., Perry, V. Hugh, Dwek, Raymond A., Platt, Frances M.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1999
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC26891/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10339597/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.11.6388
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