Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

@article{Sango1995MouseMO,
  title={Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism},
  author={Kazunori Sango and Shoji Yamanaka and Alexander Hoffmann and Yasuharu Okuda and Alexander Grinberg and Heiner Westphal and Michael P. McDonald and Jacqueline N. Crawley and Konrad Sandhoff and Kinuko Suzuki and Richard L Proia},
  journal={Nature Genetics},
  year={1995},
  volume={11},
  pages={170-176}
}
Tay–Sachs and Sandhoff diseases are clinically similar neurodegenerative disorders. These two sphingolipidoses are characterized by a heritable absence of β–hexosaminidase A resulting in defective GM2 ganglioside degradation. Through disruption of the Hexa and Hexb genes in embryonic stem cells, we have established mouse models corresponding to each disease. Unlike the two human disorders, the two mouse models show very different neurologic phenotypes. Although exhibiting biochemical and… CONTINUE READING
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