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Updated: Jun 13, 2026
11:40
Characterization of Neuronal Lysosome Interactome with Proximity Labeling Proteomics
Published on: June 23, 2022
Lysosomal storage disease: revealing lysosomal function and physiology
Emma J Parkinson-Lawrence1, Tetyana Shandala, Mark Prodoehl
1Cell Biology of Disease Research Group, Sansom Institute for Health Research, Division of Health Science, University of South Australia, Adelaide, Australia.
Physiology (Bethesda, Md.)
|May 1, 2010
Summary
Lysosomal storage disorders arise from lysosome dysfunction, impacting cellular degradation. Understanding their pathophysiology enhances our knowledge of lysosomal biology and disease mechanisms.
Area of Science:
- Cell Biology
- Biochemistry
- Genetics
Background:
- Lysosomes are key degradative organelles.
- Lysosome dysfunction causes lysosomal storage disorders.
- These disorders have historical and biological significance.
Purpose of the Study:
- Review the history and pathophysiology of lysosomal storage disorders.
- Illustrate their impact on lysosomal biology.
- Explore the link between substrate accumulation and disease.
Main Methods:
- Literature review of historical and current research.
- Analysis of molecular genetics and biochemistry data.
- Pathophysiological examination of substrate accumulation effects.
Main Results:
- Lysosomal storage disorders provide insights into lysosomal function.
- Accumulation of undegraded substrates disrupts cellular processes.
- Diverse pathophysiology results from disrupted degradation, traffic, and biogenesis.
Conclusions:
- Despite advances, the precise link between storage material and pathogenesis remains unclear.
- Substrate accumulation has widespread cellular consequences.
- Lysosomal storage disorders are complex, impacting multiple cellular functions.
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