1996
DOI: 10.1038/ng1196-348
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Mice lacking both subunits of lysosomal β–hexosaminidase display gangliosidosis and mucopolysaccharidosis

Abstract: The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha). In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice. Lacki… Show more

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Cited by 191 publications
(158 citation statements)
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“…Because muscle weakness is the primary clinical component of IBM, we investigated whether deficits in muscle balance and coordination accompanied the underlying histopathological changes in MCK-␤APP muscle. Mice were evaluated on the accelerating rotarod, a well characterized behavioral task designed to assess motor performance (30,31). At the earlier times (Ͻ10 months of age) we did not detect significant differences in performance between transgenic and nontransgenic mice (Fig.…”
Section: Mck-␤app Micementioning
confidence: 99%
“…Because muscle weakness is the primary clinical component of IBM, we investigated whether deficits in muscle balance and coordination accompanied the underlying histopathological changes in MCK-␤APP muscle. Mice were evaluated on the accelerating rotarod, a well characterized behavioral task designed to assess motor performance (30,31). At the earlier times (Ͻ10 months of age) we did not detect significant differences in performance between transgenic and nontransgenic mice (Fig.…”
Section: Mck-␤app Micementioning
confidence: 99%
“…32) and natural mutant BALB/cNctrNpc1 m1N /J Npc1-deficient mice (a model of Niemann-Pick type C disease; Ref. 33) show defects in their ability to positively select and stimulate type 1 NKT cells (31), the effects of the Nkt2b congenic interval on NKT cell stimulation were studied.…”
Section: Effects Of the Nkt2b Congenic Interval On Glycolipid Presentmentioning
confidence: 99%
“…29 The wires were 1 mm in diameter and spaced 1 cm apart. A rectangular area of the screen was taped off to confine the mouse to an 18 ϫ 26 cm section of the screen.…”
Section: Wire Hanging Testmentioning
confidence: 99%