LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance

Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Luellmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, et al. (2014)
Proceedings of the National Academy of Sciences 111(43): 15573-15578.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Rothaug, Michelle; Zunke, Friederike; Mazzulli, Joseph R.; Schweizer, Michaela; Altmeppen, Hermann; Luellmann-Rauch, Renate; Kallemeijn, Wouter W.; Gaspar, Paulo; Aerts, Johannes M.; Glatzel, Markus; Saftig, Paul; Krainc, Dimitri
Abstract / Bemerkung
Mutations within the lysosomal enzyme beta-glucocerebrosidase (GC) result in Gaucher disease and represent a major risk factor for developing Parkinson disease (PD). Loss of GC activity leads to accumulation of its substrate glucosylceramide and alpha-synuclein. Since lysosomal activity of GC is tightly linked to expression of its trafficking receptor, the lysosomal integral membrane protein type-2 (LIMP-2), we studied alpha-synuclein metabolism in LIMP-2-deficient mice. These mice showed an alpha-synuclein dosage-dependent phenotype, including severe neurological impairments and premature death. In LIMP-2-deficient brains a significant reduction in GC activity led to lipid storage, disturbed autophagic/lysosomal function, and alpha-synuclein accumulation mediating neurotoxicity of dopaminergic (DA) neurons, apoptotic cell death, and inflammation. Heterologous expression of LIMP-2 accelerated clearance of overexpressed alpha-synuclein, possibly through increasing lysosomal GC activity. In surviving DA neurons of human PD midbrain, LIMP-2 levels were increased, probably to compensate for lysosomal GC deficiency. Therefore, we suggest that manipulating LIMP-2 expression to increase lysosomal GC activity is a promising strategy for the treatment of synucleinopathies.
Proceedings of the National Academy of Sciences
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Rothaug M, Zunke F, Mazzulli JR, et al. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences. 2014;111(43):15573-15578.
Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., Altmeppen, H., Luellmann-Rauch, R., Kallemeijn, W. W., et al. (2014). LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences, 111(43), 15573-15578. doi:10.1073/pnas.1405700111
Rothaug, Michelle, Zunke, Friederike, Mazzulli, Joseph R., Schweizer, Michaela, Altmeppen, Hermann, Luellmann-Rauch, Renate, Kallemeijn, Wouter W., et al. 2014. “LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance”. Proceedings of the National Academy of Sciences 111 (43): 15573-15578.
Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., Altmeppen, H., Luellmann-Rauch, R., Kallemeijn, W. W., Gaspar, P., Aerts, J. M., Glatzel, M., et al. (2014). LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences 111, 15573-15578.
Rothaug, M., et al., 2014. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences, 111(43), p 15573-15578.
M. Rothaug, et al., “LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance”, Proceedings of the National Academy of Sciences, vol. 111, 2014, pp. 15573-15578.
Rothaug, M., Zunke, F., Mazzulli, J.R., Schweizer, M., Altmeppen, H., Luellmann-Rauch, R., Kallemeijn, W.W., Gaspar, P., Aerts, J.M., Glatzel, M., Saftig, P., Krainc, D., Schwake, M., Blanz, J.: LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences. 111, 15573-15578 (2014).
Rothaug, Michelle, Zunke, Friederike, Mazzulli, Joseph R., Schweizer, Michaela, Altmeppen, Hermann, Luellmann-Rauch, Renate, Kallemeijn, Wouter W., Gaspar, Paulo, Aerts, Johannes M., Glatzel, Markus, Saftig, Paul, Krainc, Dimitri, Schwake, Michael, and Blanz, Judith. “LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance”. Proceedings of the National Academy of Sciences 111.43 (2014): 15573-15578.

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