Article
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Molecular genetics and metabolism - 1 Nov 2016
Palhais Bruno, Dembic Maja, Sabaratnam Rugivan, Nielsen Kira S, Doktor Thomas Koed, Bruun Gitte Hoffmann, Andresen Brage Storstein
Abstract excerpt
Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal α-galactosidase A enzyme due to mutations in the GLA gene. The prevalent c.639+919 G>A mutation in GLA leads to pathogenic insertion of a 57bp pseudoexon sequence from intron 4, which is responsible for the cardiac variant phenotype. In this study we investigate the...
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