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Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells
Fabry disease is an X-linked disorder caused by mutations in the GLA gene encoding for α-galactosidase A (AGA, EC 3.2.1.22). Measurement of AGA enzyme activity using cell homogenates can easily identify men with Fabry disease, but in women, the degree of X-inactivation in the tested tissue may produ...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The American Society for Biochemistry and Molecular Biology
2010
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2918463/ https://ncbi.nlm.nih.gov/pubmed/20526001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D007294 |
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