Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
Sign Up to like & getrecommendations! Published in 2019 at "RNA Biology"
DOI: 10.1080/15476286.2019.1676115
Abstract: ABSTRACT 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)… read more here.
Keywords: missense variants; dominant negative; interaction wild; nonsense mutations ... See more keywords
In vitro evidence consistent with an interaction between wild‐type and mutant SOD1 protein associated with canine degenerative myelopathy
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neuroscience"
DOI: 10.1111/ejn.14526
Abstract: Canine degenerative myelopathy (DM) is a progressive neurological disorder that may be considered to be a large animal model for specific forms of the fatal human disease, familial amyotrophic lateral sclerosis (fALS). DM is associated… read more here.
Keywords: wild type; type mutant; interaction wild; sod1 ... See more keywords