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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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Vydáno v:	RNA Biol
Hlavní autoři:	Lombardi, Silvia, Ferrarese, Mattia, Marchi, Saverio, Pinton, Paolo, Pinotti, Mirko, Bernardi, Francesco, Branchini, Alessio
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Taylor & Francis 2019
Témata:	Research Paper
On-line přístup:	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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Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants

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