Huntingtin and Its Role in Mechanisms of RNA-Mediated Toxicity.

ABSTRACT: Huntington's disease (HD) is caused by a CAG-repeat expansion mutation in the Huntingtin (HTT) gene. It is characterized by progressive psychiatric and neurological symptoms in combination with a progressive movement disorder. Despite the ubiquitous expression of HTT, pathological changes occur quite selectively in the central nervous system. Since the discovery of HD more than 150 years ago, a lot of research on molecular mechanisms contributing to neurotoxicity has remained the focal point. While traditionally, the protein encoded by the HTT gene remained the cynosure for researchers and was extensively reviewed elsewhere, several studies in the last few years clearly indicated the contribution of the mutant RNA transcript to cellular dysfunction as well. In this review, we outline recen

SUBMITTER: Heinz A 

PROVIDER: S-EPMC8310054 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature