Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.
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ABSTRACT:
SUBMITTER: Kaya E
PROVIDER: S-EPMC7230825 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
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Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.
Kaya Ecem E Smith David A DA Smith Claire C Boland Barry B Strupp Michael M Platt Frances M FM
Journal of clinical medicine 20200408 4
Sandhoff disease is a rare neurodegenerative lysosomal storage disease associated with the storage of GM2 ganglioside in late endosomes/lysosomes. Here, we explored the efficacy of acetyl-DL-leucine (ADLL), which has been shown to improve ataxia in observational studies in patients with Niemann-Pick Type C1 and other cerebellar ataxias. We treated a mouse model of Sandhoff disease (<i>Hexb<sup>-/-</sup></i>) (0.1 g/kg/day) from 3 weeks of age with this orally available drug. ADLL produced a mode ...[more]
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