Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF). LIMP2-deficient fibroblasts virtually lack GBA like the cells of patients with Gaucher disease (GD), a lysosomal sto...

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Detalles Bibliográficos
Autores principales: Gaspar, Paulo, Kallemeijn, Wouter W., Strijland, Anneke, Scheij, Saskia, Van Eijk, Marco, Aten, Jan, Overkleeft, Herman S., Balreira, Andrea, Zunke, Friederike, Schwake, Michael, Sá Miranda, Clara, Aerts, Johannes M. F. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Biochemistry and Molecular Biology 2014
Materias:
Patient-Oriented and Epidemiological Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927471/
https://www.ncbi.nlm.nih.gov/pubmed/24212238
http://dx.doi.org/10.1194/jlr.M043802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927471/
https://www.ncbi.nlm.nih.gov/pubmed/24212238
http://dx.doi.org/10.1194/jlr.M043802

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