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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...

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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: Wolf, Heike, Damme, Markus, Stroobants, Stijn, D'Hooge, Rudi, Beck, Hans Christian, Hermans-Borgmeyer, Irm, Lüllmann-Rauch, Renate, Dierks, Thomas, Lübke, Torben
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2016
Assuntos:
Acesso em linha: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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