The DOI matches its Crossref record; 167 of the 167 references it cites were found in a registry or an index.
Lysosomal storage disorders
Abstract
Summary: Although the first description of a lysosomal storage disorder was that of Tay‐Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the intracellular biology of these enzymes and their substrates, culminating in the successful treatment of Gaucher's disease with β‐glucosidase in the early 1990s. It is now recognized that these disorders are not simply a consequence of pure storage, but result from perturbation of complex cell signalling mechanisms. These in turn give rise to secondary structural and biochemical changes, which have important implications for therapy. Significant challenges remain, particularly the treatment of central nervous system disease. It is hoped that recent advances in our understanding of lysosomal biology will enable successful therapies to be developed.
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Cites
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JUNCTIONS BETWEEN INTIMATELY APPOSED CELL MEMBRANES IN THE VERTEBRATE BRAIN
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Current clinical applications of in vivo gene therapy with AAVs
Mendell, J. R., Al-Zaidy, S. A., Rodino-Klapac, L. R., Goodspeed, K., Gray, S. J., Kay, C. N., Boye, S. L., Boye, S. E., George, L. A., Salabarria, S., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2020.12.007 · Cited by 743
Sphingolipid metabolism diseases
Kolter, T., & Sandhoff, K. (2006) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2006.05.027 · Cited by 367
The rapidly evolving view of lysosomal storage diseases
Parenti, G., Medina, D. L., & Ballabio, A. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202012836 · Cited by 230
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Metadata
- Authors
- Vellodi, A.
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2005-02
- Volume
- 128
- Issue
- 4
- Pages
- 413-431
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W2065183180
- Cited by
- 295
- References
- 167
- FWCI
- 12.59
- Type
- journal article
- Language
- en
- Open access
- closed
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