The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
α-Galactosidase A deficient mice: A model of Fabry disease
Open accessAbstract
Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of α-galactosidase A (α-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal α-linked galactosyl moieties in vascular endothelial cells causes renal failure along with premature myocardial infarctions and strokes in patients with this condition. No specific treatment is available for patients with this disorder at this time. An animal model of this condition would be valuable for exploring therapeutic strategies for patients with Fabry disease. We report here the generation of α-Gal A deficient mice by gene targeting and an analysis of the resulting phenotype. The knockout mice display a complete lack of α-Gal A activity. The mice, however, appeared clinically normal at 10 weeks of age. Ultrastructural analysis revealed concentric lamellar inclusions in the kidneys, and confocal microscopy using a fluorescent-labeled lectin specific for α- d -galactosyl residues showed accumulation of substrate in the kidneys as well as in cultured fibroblasts. Lipid analysis revealed a marked accumulation of ceramidetrihexoside in the liver and the kidneys. These findings indicate the similarity of the pathophysiological process in the mutant mice and in patients with Fabry disease. The deficiency of α-Gal A activity and the accumulation of material containing terminal α-galactosyl residues in cultured embryonic fibroblasts derived from α-Gal A (−/0) mice were corrected by transducing these cells with bicistronic multidrug resistance retroviruses containing human α-Gal A cDNA.
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Cites
Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
Li, E., Bestor, T. H., & Jaenisch, R. (1992) · Cell · doi:10.1016/0092-8674(92)90611-f · Cited by 3,984
Kulkarni, A. B., Huh, C. G., Becker, D., Geiser, A., Lyght, M., Flanders, K. C., Roberts, A. B., Sporn, M. B., Ward, J. M., & Karlsson, S. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.2.770 · Cited by 1,967
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Cited by
Germain, D. P. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-30 · Cited by 1,198
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Aerts, J. M., Groener, J. E., Kuiper, S., Donker-Koopman, W. E., Strijland, A., Ottenhoff, R., van Roomen, C., Mirzaian, M., Wijburg, F. A., Linthorst, G. E., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712309105 · Cited by 731
Self-citationSphingolipid metabolism diseases
Kolter, T., & Sandhoff, K. (2006) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2006.05.027 · Cited by 367
Gene therapy for lysosomal storage diseases
Sands, M. S., & Davidson, B. L. (2006) · Molecular Therapy · doi:10.1016/j.ymthe.2006.01.006 · Cited by 285
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders
Desnick, R. J., & Schuchman, E. H. (2002) · Nature Reviews Genetics · doi:10.1038/nrg963 · Cited by 268
Metadata
- Authors
- Ohshima, T., Murray, G. J., Swaim, W. D., Longenecker, G., Quirk, J. M., Cardarelli, C. O., Sugimoto, Y., Pastan, I., Gottesman, M. M., Brady, R. O., & Kulkarni, A. B.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1997-03-18
- Volume
- 94
- Issue
- 6
- Pages
- 2540-2544
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2092976540
- Cited by
- 367
- References
- 2
- FWCI
- 5.55
- Type
- journal article
- Language
- en
- Open access
- green
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- Ohshima, T., Murray, G. J., Swaim, W. D., Longenecker, G., Quirk, J. M., Cardarelli, C. O., Sugimoto, Y., Pastan, I., Gottesman, M. M., Brady, R. O., & Kulkarni, A. B. (1997). α-Galactosidase A deficient mice: A model of Fabry disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.94.6.2540
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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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