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N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.

Abstract:

GM1 gangliosidosis is a glycosphingolipid (GSL) lysosomal storage disease caused by a genetic deficiency of acid beta-galactosidase (beta-gal), the enzyme that catabolyzes GM1 within lysosomes. Accumulation of GM1 and its asialo form (GA1) occurs primarily in the brain, leading to progressive neurodegeneration and brain dysfunction. Substrate reduction therapy aims to decrease the rate of GSL biosynthesis to counterbalance the impaired rate of catabolism. The imino sugar N-butyldeoxygalactono...

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Publication status:
Published

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Authors


Kasperzyk, JL More by this author
El-Abbadi, MM More by this author
Hauser, EC More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
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Journal:
Journal of neurochemistry
Volume:
89
Issue:
3
Pages:
645-653
Publication date:
2004-05-05
DOI:
EISSN:
1471-4159
ISSN:
0022-3042
URN:
uuid:1d8e4aa1-f7f8-4f89-bdb4-1b7390720b56
Source identifiers:
185239
Local pid:
pubs:185239

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