TY - JOUR
T1 - Lysosomal storage disorders
T2 - The cellular impact of lysosomal dysfunction
AU - Platt, Frances M.
AU - Boland, Barry
AU - van der Spoel, Aarnoud C.
PY - 2012/11
Y1 - 2012/11
N2 - 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 nonenzymatic 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.
AB - 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 nonenzymatic 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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U2 - 10.1083/jcb.201208152
DO - 10.1083/jcb.201208152
M3 - Article
C2 - 23185029
AN - SCOPUS:84871960929
SN - 0021-9525
VL - 199
SP - 723
EP - 734
JO - Journal of Cell Biology
JF - Journal of Cell Biology
IS - 5
ER -