The DOI matches its Crossref record; 84 of the 84 references it cites were found in a registry or an index.
Gaucher disease: pathological mechanisms and modern management
Open accessAbstract
Summary: Gaucher disease, the most common lysosomal storage disorder, is caused by the defective activity of the lysosomal enzyme, acid‐β‐glucosidase (GlcCerase), leading to accumulation of glucosylceramide (GlcCer), particularly in cells of the macrophage lineage. Nearly 200 mutations in GlcCerase have been described, but for the most part, genotype‐phenotype correlations are weak, and little is known about the down‐stream biochemical changes that occur upon GlcCer accumulation that result in cell and tissue dysfunction. In contrast, the clinical course of Gaucher disease has been well described, and at least one treatment is available, namely enzyme replacement therapy. One other treatment, substrate reduction therapy, has recently been marketed, and others are in early stages of development. This review, after discussing pathological mechanisms, evaluates the advantages and disadvantages of existing therapies.
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Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Neufeld, E. F. (1991) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.60.070191.001353 · Cited by 900
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.
Hollak, C. E., van Weely, S., van Oers, M. H., & Aerts, J. M. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117084 · Cited by 896 · cited 1×
“Finally, chitotriosidase, a human chitinase produced by activated macrophages, is markedly elevated in Gaucher plasma and is commonly used to examine GD severity and improvement upon treatment (Hollak et al, 1994; Renkema et al, 1997).”
BackgroundThe cell biology of lysosomal storage disorders
Futerman, A. H., & van Meer, G. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1423 · Cited by 796
Self-citationCox, T., Lachmann, R., Hollak, C., Aerts, J., van Weely, S., Hrebícek, M., Platt, F., Butters, T., Dwek, R., Moyses, C., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02161-9 · Cited by 744
The complex life of simple sphingolipids
Futerman, A. H., & Hannun, Y. A. (2004) · EMBO reports · doi:10.1038/sj.embor.7400208 · Cited by 659
Self-citationPastores, G. M. (2012) · Swaiman's Pediatric Neurology · doi:10.1016/b978-1-4377-0435-8.00036-6 · Cited by 633
Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews
Aharon-Peretz, J., Rosenbaum, H., & Gershoni-Baruch, R. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa033277 · Cited by 597
The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease
Charrow, J., Andersson, H. C., Kaplan, P., Kolodny, E. H., Mistry, P., Pastores, G., Rosenbloom, B. E., Scott, C. R., Wappner, R. S., Weinreb, N. J., et al. (2000) · Archives of Internal Medicine · doi:10.1001/archinte.160.18.2835 · Cited by 574
Cited by
Zheng, W., Kollmeyer, J., Symolon, H., Momin, A., Munter, E., Wang, E., Kelly, S., Allegood, J. C., Liu, Y., Peng, Q., et al. (2006) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2006.08.009 · Cited by 560
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
Vitner, E. B., Farfel-Becker, T., Eilam, R., Biton, I., & Futerman, A. H. (2012) · Brain · doi:10.1093/brain/aws095 · Cited by 149
Self-citationInduced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
Panicker, L. M., Miller, D., Park, T. S., Patel, B., Azevedo, J. L., Awad, O., Masood, M. A., Veenstra, T. D., Goldin, E., Stubblefield, B. K., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1207889109 · Cited by 129
Glycosylation and functionality of recombinant β-glucocerebrosidase from various production systems
Tekoah, Y., Tzaban, S., Kizhner, T., Hainrichson, M., Gantman, A., Golembo, M., Aviezer, D., & Shaaltiel, Y. (2013) · Bioscience Reports · doi:10.1042/bsr20130081 · Cited by 100
Metadata
- Authors
- Jmoudiak, M., & Futerman, A. H.
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2005-04
- Volume
- 129
- Issue
- 2
- Pages
- 178-188
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W2011280194
- Cited by
- 288
- References
- 84
- FWCI
- 8.58
- Type
- journal article
- Language
- en
- Open access
- bronze
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