Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

Abstract excerpt

Tay-Sachs disease, the prototype of the GM2 gangliosidoses, is a catastrophic neurodegenerative disorder of infancy. The disease is caused by mutations in the HEXA gene resulting in an absence of the lysosomal enzyme, beta-hexosaminidase A. As a consequence of the enzyme deficiency, GM2 ganglioside accumulates progressively, beginning early in fetal life, to excessive amounts in the central nervous system. Rapid...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetics and Neurodevelopmental Disorders
• Share to Lysosomal Storage Disorders Research
• Share to Neurogenetic and Muscular Disorders Research