The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology
Abstract
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept. Here, we review some of the history and pathophysiology of lysosomal storage disorders to show how they have impacted on our knowledge of lysosomal biology. Although a significant amount of information has been accrued on the molecular genetics and biochemistry of lysosomal storage disorders, we still do not fully understand the mechanistic link between the storage material and disease pathogenesis. However, the accumulation of undegraded substrate(s) can disrupt other lysosomal degradation processes, vesicular traffic, and lysosomal biogenesis to evoke the diverse pathophysiology that is evident in this complex set of disorders.
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Cites
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“that only type II skeletal muscle fibers display disorganization of the intracellular microtubule trafficking network, in areas of autophagic accumulation (40, 97, 99), is consistent with the disruption of vesicular traffic.”
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β-Amyloid Activates the O⨪2 Forming NADPH Oxidase in Microglia, Monocytes, and Neutrophils
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Cited by
The lysosome: from waste bag to potential therapeutic target
Appelqvist, H., Wäster, P., Kågedal, K., & Öllinger, K. (2013) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjt022 · Cited by 772
Jin, S.-S., He, D.-Q., Luo, D., Wang, Y., Yu, M., Guan, B., Fu, Y., Li, Z.-X., Zhang, T., Zhou, Y.-H., et al. (2019) · ACS Nano · doi:10.1021/acsnano.9b00489 · Cited by 357
Convertino, M., Das, J., & Dokholyan, N. V. (2016) · ACS Chemical Biology · doi:10.1021/acschembio.6b00195 · Cited by 105
The FReJA consortium, Clayton, E. L., Mizielinska, S., Edgar, J. R., Nielsen, T. T., Marshall, S., Norona, F. E., Robbins, M., Damirji, H., Holm, I. E., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1475-3 · Cited by 96
Second-Generation Pharmacological Chaperones: Beyond Inhibitors
Tran, M. L., Génisson, Y., Ballereau, S., & Dehoux, C. (2020) · Molecules · doi:10.3390/molecules25143145 · Cited by 63
Metadata
- Authors
- Parkinson-Lawrence, E. J., Shandala, T., Prodoehl, M., Plew, R., Borlace, G. N., & Brooks, D. A.
- Venue
- Physiology
- Publisher
- American Physiological Society
- Published
- 2010-04
- Volume
- 25
- Issue
- 2
- Pages
- 102-115
- ISSN
- 0886-1714 (ISSN-L)
- 1548-9213
- 1548-9221
- OpenAlex
- W2114899816
- Cited by
- 220
- References
- 7
- FWCI
- 8.75
- Type
- journal article
- Language
- en
- Open access
- closed
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- Parkinson-Lawrence, E. J., Shandala, T., Prodoehl, M., Plew, R., Borlace, G. N., & Brooks, D. A. (2010). Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology. Physiology. https://doi.org/10.1152/physiol.00041.2009
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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