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Structural characterization of mutant alpha-galactosidases causing Fabry disease

Kanako Sugawara1, Kazuki Ohno2, Seiji Saito3

  • 1Department of Analytical Biochemistry, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan.

Journal of Human Genetics
|July 18, 2008
PubMed
Summary

Structural modeling of alpha-galactosidase (GLA) in Fabry disease reveals distinct mutation patterns. Classic mutations cause large structural changes, while variant mutations result in smaller, surface-localized alterations, aiding in predicting disease outcomes.

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