New Approaches to Tay-Sachs Disease Therapy

doi:10.3389/fphys.2018.01663

Article

New Approaches to Tay-Sachs Disease Therapy

20 Nov 2018

Abstract excerpt

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration preceded by activated microglia...

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