Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

A lysosomal storage disease (LSD) results from deficient lysosomal enzyme activity, thus the substrate of the mutant enzyme accumulates in the lysosome, leading to pathology. In many but not all LSDs, the clinically most important mutations compromise the cellular folding of the enzyme, subjecting i...

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Detalles Bibliográficos
Autores principales: Mu, Ting-Wei, Fowler, Douglas M, Kelly, Jeffery W
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2225441/
https://www.ncbi.nlm.nih.gov/pubmed/18254660
http://dx.doi.org/10.1371/journal.pbio.0060026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2225441/
https://www.ncbi.nlm.nih.gov/pubmed/18254660
http://dx.doi.org/10.1371/journal.pbio.0060026

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