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A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucos...
Gardado en:
| Publicado en: | Dis Model Mech |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The Company of Biologists Ltd
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5047687/ https://ncbi.nlm.nih.gov/pubmed/27491075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.025122 |
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