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

Abstract:

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...

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Publication status:
Published

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Publisher copy:
10.1083/jcb.201208152

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
van der Spoel, AC More by this author
Journal:
The Journal of cell biology
Volume:
199
Issue:
5
Pages:
723-734
Publication date:
2012-11-05
DOI:
EISSN:
1540-8140
ISSN:
0021-9525
URN:
uuid:667f8952-52f0-4c9a-a752-014c3185c086
Source identifiers:
365567
Local pid:
pubs:365567

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