Advances in molecular and cell biology of dystonia: Focus on torsinA
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2019.03.007
Abstract: During the last two decades, our knowledge on the genetic bases of Mendelian forms of dystonia has expanded significantly. This has translated into the generation of multiple cell and animal models to explore the neurobiological… read more here.
Keywords: dystonia; molecular cell; torsina; advances molecular ... See more keywords
The AAA + ATPase TorsinA polymerizes into hollow helical tubes with 8.5 subunits per turn
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-11194-w
Abstract: TorsinA is an ER-resident AAA + ATPase, whose deletion of glutamate E303 results in the genetic neuromuscular disease primary dystonia. TorsinA is an unusual AAA + ATPase that needs an external activator. Also, it likely does not thread a… read more here.
Keywords: per turn; torsina; subunits per; aaa atpase ... See more keywords