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Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100494
Abstract: The pharmacological chaperone migalastat is indicated for the treatment of Fabry disease in patients with an amenable GLA variant. Amenability is determined by an in vitro, good laboratory practice (GLP)-validated assay using HEK293 cells (GLP-HEK…
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Keywords:
migalastat;
hek assay;
fabry disease;
amenability ... See more keywords
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Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.122
Abstract: 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…
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Keywords:
hek assay;
validation pharmacogenetics;
pharmacogenetics identification;
fabry patients ... See more keywords
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Published in 2017 at "Nephron"
DOI: 10.1159/000475511
Abstract: s Nephron 2017;136:163–182 DOI: 10.1159/000475511 168 frame insertions/deletions, and multiple-site missense mutations may result in mutant forms amenable to the mechanism of action of migalastat. However, mutations that impair the synthesis of α-Gal A, severely…
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Keywords:
migalastat;
hek assay;
site;
mutant forms ... See more keywords
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Published in 2020 at "SLAS Discovery"
DOI: 10.1177/2472555220914532
Abstract: The voltage-gated sodium channel Nav1.7 is a genetically validated target for pain; pharmacological blockers are promising as a new class of nonaddictive therapeutics. The search for Nav1.7 subtype selective inhibitors requires a reliable, scalable, and…
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Keywords:
spiking hek;
hek assay;
nav1 inhibitors;
optopatch spiking ... See more keywords