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

Abstract excerpt

Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the beta-subunit of beta-hexosaminidase. GM2 ganglioside fails to be degraded and accumulates within lysosomes in cells of the periphery and the central nervous system (CNS). There are currently no therapies for the glycosphingolipid lysosomal storage diseases that...

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