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Mice Doubly-deficient in lysosomal hexosaminidase a and neuraminidase 4 show epileptic crises and rapid neuronal loss
(Public Library of Science, 2010-09)
Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the a-subunit of lysosomal β-hexosaminidase A, which converts GM2 to GM3 ganglioside. Hexa-/- mice, depleted of b-hexosaminidase ...