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

@article{Yamanaka1994TargetedDO,
  title={Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.},
  author={Shinya Yamanaka and Martin D Johnson and Alexander Grinberg and Heiner Westphal and Jacqueline N. Crawley and Masayuki Taniike and Kinuko Suzuki and Richard L Proia},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1994},
  volume={91 21},
  pages={9975-9}
}
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 mental and motor deterioration starting in the first year of life leads to death by… CONTINUE READING