Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.
Miguel Alves-FerreiraAna AzevedoTeresa CoelhoDiana SantosLeonor Correia GuedesIsabel AlonsoAlda SousaCarolina LemosPublished in: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (2021)
Variants within the promoter region may modify disease expressivity and variants in the 3'UTR can impact the efficacy of novel therapeutic interventions. Importantly, the putative mechanisms of regulation of gene expression within the TTR gene deserve to be better explored, in order to be used in the future as potential therapeutical targets.