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- W2080349903 abstract "Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase (ASPA) gene mutations resulting enzyme deficiency. The homozygous knockout mouse for CD showed symptoms similar observed in patients with CD. Canavan disease leads to early death. Therefore, a role of ASPA in reproduction was investigated using the mouse model for CD. Homozygous (KO/KO) pups, produced by mating female heterozygous (KO/+) mouse with KO/+ males had approximately 12% death incidence rates in the first 2 months of life. KO/KO mothers mated with KO/+ males showed fetal death. KO/KO mothers produced fewer offspring compared to KO/+ mothers. These data suggest that ASPA is necessary for normal reproduction and postnatal survival." @default.
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- W2080349903 date "2005-07-01" @default.
- W2080349903 modified "2023-09-27" @default.
- W2080349903 title "Aspartoacylase gene knockout in the mouse: Impact on reproduction" @default.
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- W2080349903 doi "https://doi.org/10.1016/j.reprotox.2005.02.001" @default.
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