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Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which lead to abnormal storage of macromolecular subst...

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Detalles Bibliográficos
Autores principales: Platt, Frances M., Boland, Barry, van der Spoel, Aarnoud C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514785/
https://www.ncbi.nlm.nih.gov/pubmed/23185029
http://dx.doi.org/10.1083/jcb.201208152