NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Marisa EncarnaçãoMaria Francisca CoutinhoSoo Min ChoMaria Teresa CardosoIsaura RibeiroPaulo Castro-ChavesJuliana Inês SantosDulce QuelhasLúcia LacerdaElisa Leão TelesAnthony H FutermanLaura VilarinhoSandra AlvesPublished in: Molecular genetics & genomic medicine (2020)
We showed that the NPC1 silent polymorphism (p.V562V) is a disease-causing variant in NPC and that the UPR is upregulated in an NPC patient.