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JOURNAL ARTICLE
REVIEW
Advances in molecular and cell biology of dystonia: Focus on torsinA.
Neurobiology of Disease 2019 March 13
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 bases of this hyperkinetic movement disorder. A majority of these studies have focused on DYT1 dystonia, caused by dominant mutations in the gene encoding for the protein torsinA. Since its discovery, work in multiple laboratories helped identify the subcellular localization of torsinA, key structural features, functionally important physical interactions and biological pathways and physiological events influenced by torsinA. Moreover, recent experimental work indicates potential shared pathogenic pathways between different genetic forms of dystonia. This review will summarize our current knowledge on the molecular and basic biological features of torsinA and its dysfunction when carrying disease-causing mutation, identifying future research priorities and proposing a model of dystonia pathogenesis that might extend beyond DYT1.
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