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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...
Autores principales: | Platt, Frances M., Boland, Barry, van der Spoel, Aarnoud C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Rockefeller University Press
2012
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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 |
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