Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants

Nonsense mutations are relatively frequent in the rare X-linked lysosomal α-galactosidase A (α-Gal) deficiency (Fabry disease; FD), but have been poorly investigated. Here, we evaluated the responsiveness of a wide panel (n = 14) of GLA premature termination codons (PTCs) to the RNA-based approach o...

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Bibliographic Details
Published in:RNA Biol
Main Authors: Lombardi, Silvia, Ferrarese, Mattia, Marchi, Saverio, Pinton, Paolo, Pinotti, Mirko, Bernardi, Francesco, Branchini, Alessio
Format: Artigo
Language:Inglês
Published: Taylor & Francis 2019
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Research Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6973320/
https://ncbi.nlm.nih.gov/pubmed/31613176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15476286.2019.1676115
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