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The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

dc.contributor.authorPlatt, F. M.en_US
dc.contributor.authorBoland, B.en_US
dc.contributor.authorvan der Spoel, A. C.en_US
dc.date.accessioned2014-03-25T18:20:39Z
dc.date.available2014-03-25T18:20:39Z
dc.date.issued2012-11en_US
dc.description.abstractLysosomal 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 substrates. Valuable insights into lysosome functions have emerged from research into these diseases. In addition to primary lysosomal dysfunction, cellular pathways associated with other membrane-bound organelles are perturbed in these disorders. Through selective examples, we illustrate why the term "cellular storage disorders" may be a more appropriate description of these diseases and discuss therapies that can alleviate storage and restore normal cellular function.en_US
dc.identifier.citationPlatt, F. M., B. Boland, and A. C. van der Spoel. 2012. "The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction." The Journal of cell biology 199(5): 723-734. doi:10.1083/jcb.201208152en_US
dc.identifier.issn1540-8140en_US
dc.identifier.issue5en_US
dc.identifier.startpage723en_US
dc.identifier.urihttp://dx.doi.org/10.1083/jcb.201208152en_US
dc.identifier.urihttp://hdl.handle.net/10222/47293
dc.identifier.volume199en_US
dc.language.isoCheck Language Codeen_US
dc.relation.ispartofThe Journal of cell biologyen_US
dc.rights.holderCopyright © 2012 Platt et al
dc.titleThe cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunctionen_US
dc.typeTexten_US

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