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Article

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling

16 May 2002

Abstract excerpt

Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons. In each disorder, a virtually identical course of neurodegeneration begins in infancy and leads to demise generally by 4-6 years of age. Through serial analysis of gene expression (SAGE), we determined gene expression profiles in cerebral...

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PMID: 12019216
DOI: 10.1093/hmg/11.11.1343

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