The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.
By F. Platt, B. Boland, A. C. van der Spoel. Journal of Cell Biology, 2012
637 citations recorded by the source corpus.
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 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.
Subfields: Cell Biology, Physiology
View Paper: https://www.semanticscholar.org/paper/2dd76e018b5133f6660fb3ccde38b3471c0281cc
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Citations in the corpus
- The lysosome: from waste bag to potential therapeutic target. (2013, background): “…about such diseases, their clinical symptoms, the pathological changes as well as the therapeutic options available, we refer to the following articles (Ballabio and Gieselmann, 2009; Bellettato and Scarpa, 2010; Parkinson-Lawrence et al., 2010; Platt et al., 2012; van Gelder et al., 2012).”
- Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, positive): “…caused by loss-of-function of specific lysosomal hydrolases, leading to the accumulation of the substrates of these enzymes and accumulation of general autophagic substrates due to impaired autophagosome-lysosome fusion (Ballabio and Gieselmann, 2009; Platt et al., 2012; Settembre et al., 2008).”