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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: Oxford University Press 2012
Fag:
Original Articles
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker