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The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

The function of the CLN3 protein, which is mutated in patients with the neurodegenerative lysosomal storage disorder Batten disease, has remained elusive since it was identified 13 years ago. Here, we exploited the Schizosaccharomyces pombe model to gain new insights into CLN3 function. We modelled...

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Detalhes bibliográficos
Main Authors: Haines, Rebecca L., Codlin, Sandra, Mole, Sara E.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Limited 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2615160/
https://ncbi.nlm.nih.gov/pubmed/19132115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.000851
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