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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Detaylı Bibliyografya
Asıl Yazarlar: Kaneski, Christine R., Schiffmann, Raphael, Brady, Roscoe O., Murray, Gary J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society for Biochemistry and Molecular Biology 2010
Konular:
Methods
Online Erişim: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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