The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

doi:10.1038/gim.2016.122

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Article

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2017

Benjamin Elfrida R, Della Valle Maria Cecilia, Wu Xiaoyang, Katz Evan, Pruthi Farhana, Bond Sarah, Bronfin Benjamin, Williams Hadis, Yu Julie, Bichet Daniel G, Germain Dominique P, Giugliani Roberto, Hughes Derralynn, Schiffmann Raphael, Wilcox William R, Desnick Robert J, Kirk John, Barth Jay, Barlow Carrolee, Valenzano Kenneth J, Castelli Jeff, Lockhart David J

Abstract excerpt

PURPOSE: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity. METHODS: A pharmacogenetic assay was used to identify the α-galactosidase A mutant forms amenable to migalastat. Six hundred Fabry disease-causing mutations were expressed in...

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PMID: 27657681
DOI: 10.1038/gim.2016.122
PMCID: PMC5392595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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