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Article

Reversibility of neuropathology in Tay–Sachs-related diseases

20 Sept 2013

Abstract excerpt

The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. Accumulation of β-hexosaminidases A and B substrates is presumed to cause this fatal condition. An authentic mouse model of Sandhoff disease (SD) with pathological characteristics resembling those noted in infantile GM2 gangliosidosis has been described. We have shown that expression...

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PMID: 24057669
DOI: 10.1093/hmg/ddt459

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