Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

Mucolipidosis II is a neurometabolic lysosomal trafficking disorder of infancy caused by loss of mannose 6-phosphate targeting signals on lysosomal proteins, leading to lysosomal dysfunction and accumulation of non-degraded material. However, the identity of storage material and mechanisms of neurod...

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Autors principals: Kollmann, K., Damme, M., Markmann, S., Morelle, W., Schweizer, M., Hermans-Borgmeyer, I., Röchert, A. K., Pohl, S., Lübke, T., Michalski, J.-C., Käkelä, R., Walkley, S. U., Braulke, T.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3437033/
https://ncbi.nlm.nih.gov/pubmed/22961545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws209
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