Bioimpacts. 2013;3(4): 145-147.
doi: 10.5681/bi.2013.029
PMID: 24455477
PMCID: PMC3892733
Scopus ID: 84893428618
  Abstract View: 776
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Lysosomal Storage Diseases: Heterogeneous Group of Disorders

David A. Wenger, Paola Luzi, Mohammad A. Rafi *

1 Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA


The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioning, proteins needed for post-translational modification of these enzymes and proteins required for export of certain compounds from the lysosomes.
Keywords: Lysosomal storage diseases, LSDs, Sphingolipid activator proteins, SAPs, Saposins, Psychosine
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Submitted: 13 Jan 2014
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