Article
Cell-intrinsic effects of TorsinA(ΔE) disrupt dopamine release in a mouse model of TOR1A dystonia.
Neurobiology of disease - 1 Jul 2021
Downs Anthony M, Fan Xueliang, Kadakia Radhika F, Donsante Yuping, Jinnah H A, Hess Ellen J
Abstract excerpt
TOR1A-associated dystonia, otherwise known as DYT1 dystonia, is an inherited dystonia caused by a three base-pair deletion in the TOR1A gene (TOR1AΔE). Although the mechanisms underlying the dystonic movements are largely unknown, abnormalities in striatal dopamine and acetylcholine neurotransmission are consistently implicated whereby dopamine release is reduced while cholinergic tone is increased. Because...
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