Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

FM Platt, B Boland, AC van der Spoel - Journal of Cell Biology, 2012 - rupress.org
FM Platt, B Boland, AC van der Spoel
Journal of Cell Biology, 2012rupress.org
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 …
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.
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