Ontology highlight
ABSTRACT:
SUBMITTER: Li J
PROVIDER: S-EPMC7141835 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Li Jay J Liang Chun-Chi CC Pappas Samuel S SS Dauer William T WT
eLife 20200323
Genetic redundancy can be exploited to identify therapeutic targets for inherited disorders. We explored this possibility in DYT1 dystonia, a neurodevelopmental movement disorder caused by a loss-of-function (LOF) mutation in the <i>TOR1A</i> gene encoding torsinA. Prior work demonstrates that torsinA and its paralog torsinB have conserved functions at the nuclear envelope. This work established that low neuronal levels of torsinB dictate the neuronal selective phenotype of nuclear membrane budd ...[more]