Table 2.
Animal Models of LSDs Amenable to Evaluating Pharmacological Chaperones
| |
|
Animal Model |
|
|
|---|---|---|---|---|
| Disease | Deficient Enzyme | Mutation | Species | References |
| Fabry disease | α-Galactosidase A | hR301Q TgM | GLA KO mouse | 136 |
| hR301Q Tg | GLA KO mouse | 131 | ||
| hR301Q TgG3S(+/−)M(+/−) | GLA KO mouse+GB3 synthase | 188 | ||
| Gaucher disease | β-Glucocerebrosidase | mL444P | KI mouse | 189, 190 |
| mV394L | KI mouse | 191 | ||
| mD409H | KI mouse | 191 | ||
| M4L/PS-NA | mV394L KI mouse crossed with prosaposin KO mouse (PS-NA) | 192 | ||
| M9H/PS-NA | mD409H KI mouse crossed with prosaposin KO mouse | 192 | ||
| C381Y/P467L | Sheep (spontaneous mutation) | 193 | ||
| Pompe disease | Acid α-glucosidase | hP545L Tg | GAA KO mouse | 132 |
| 1639delG | Japanese quail (spontaneous mutation) | 194 | ||
| Tay Sach's disease | β-Hexosaminidase A | P4694L | Flamingo (spontaneous mutation) | 195 |
| GM1 gangliosidosis (Morquio B) | β-Galactosidase | hR201C Tg | GLB1 KO mouse | 138 |
| Krabbe disease | Galactocerebrosidase | mH168C | Mouse (spontaneous mutation) | 196 |
| cC158S | Dog (spontaneous mutation) | 197 | ||
| MPS IIIA (Sanfillippo disease) | α-N-Acetylglucosaminidase | mD31N | Mouse (spontaneous mutation) | 198, 199 |
| MPS VI (Maroteaux-Lamy) | N-Acetylgalactosamine-4-sulfatase | fL476P | Cat (spontaneous mutation) | 200 |
KO, knockout; KI, knockin; Tg, transgenic.