Article
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2018
Ferri Lorenzo, Malesci Duccio, Fioravanti Antonella, Bagordo Gaia, Filippini Armando, Ficcadenti Anna, Manna Raffaele, Antuzzi Daniela, Verrecchia Elena, Donati Ilaria, Mignani Renzo, Cavicchi Catia, Guerrini Renzo, Morrone Amelia
Abstract excerpt
BACKGROUND: Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage disorder Fabry disease (FD). Benign GLA intronic and exonic variants (e.g. pseudodeficient p.Asp313Tyr) have also been described. Some GLA...
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