| Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements. | Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.
Rauschenberger L, Krenig EM, Stengl A, Knorr S, Harder TH, Steeg F, Friedrich MU, Grundmann-Hauser K, Volkmann J, Ip CW. | 10/26/2023 |
| Cell-specific Dyt1 GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function. | Cell-specific Dyt1 ∆GAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function.
Wilkes BJ, Adury RZ, Berryman D, Concepcion LR, Liu Y, Yokoi F, Maugee C, Li Y, Vaillancourt DE., Free PMC Article | 07/26/2023 |
| Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction. | Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Pocratsky AM, Nascimento F, Özyurt MG, White IJ, Sullivan R, O'Callaghan BJ, Smith CC, Surana S, Beato M, Brownstone RM., Free PMC Article | 05/9/2023 |
| In vivo optogenetic inhibition of striatal parvalbumin-reactive interneurons induced genotype-specific changes in neuronal activity without dystonic signs in male DYT1 knock-in mice. | In vivo optogenetic inhibition of striatal parvalbumin-reactive interneurons induced genotype-specific changes in neuronal activity without dystonic signs in male DYT1 knock-in mice.
Schulz A, Richter F, Richter A. | 02/17/2023 |
| Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction. | Alpha-Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction.
Ponterio G, Faustini G, El Atiallah I, Sciamanna G, Meringolo M, Tassone A, Imbriani P, Cerri S, Martella G, Bonsi P, Bellucci A, Pisani A., Free PMC Article | 05/28/2022 |
| DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress. | DYT-TOR1A subcellular proteomics reveals selective vulnerability of the nuclear proteome to cell stress.
Shroff K, Caffall ZF, Calakos N. | 02/12/2022 |
| Characterization of the direct pathway in Dyt1 DeltaGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice. | Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.
Yokoi F, Chen HX, Oleas J, Dang MT, Xing H, Dexter KM, Li Y., Free PMC Article | 02/12/2022 |
| Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice. | Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice.
Cai H, Ni L, Hu X, Ding X., Free PMC Article | 02/5/2022 |
| Cell-intrinsic effects of TorsinA(DeltaE) disrupt dopamine release in a mouse model of TOR1A dystonia. | Cell-intrinsic effects of TorsinA(ΔE) disrupt dopamine release in a mouse model of TOR1A dystonia.
Downs AM, Fan X, Kadakia RF, Donsante Y, Jinnah HA, Hess EJ., Free PMC Article | 01/22/2022 |
| Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice. | Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice.
Liu Y, Xing H, Sheng W, Singh KN, Korkmaz AG, Comeau C, Anika M, Ernst A, Yokoi F, Vaillancourt DE, Frazier CJ, Li Y., Free PMC Article | 01/22/2022 |
| Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits. | Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits.
Wilkes BJ, DeSimone JC, Liu Y, Chu WT, Coombes SA, Li Y, Vaillancourt DE., Free PMC Article | 11/13/2021 |
| TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia. | TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia.
Li J, Levin DS, Kim AJ, Pappas SS, Dauer WT., Free PMC Article | 10/2/2021 |
| TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models. | TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.
Li J, Liang CC, Pappas SS, Dauer WT., Free PMC Article | 05/8/2021 |
| Dystonia: Sparse Synapses for D2 Receptors in Striatum of a DYT1 Knock-out Mouse Model. | Dystonia: Sparse Synapses for D2 Receptors in Striatum of a DYT1 Knock-out Mouse Model.
D'Angelo V, Paldino E, Cardarelli S, Sorge R, Fusco FR, Biagioni S, Mercuri NB, Giorgi M, Sancesario G., Free PMC Article | 11/21/2020 |
| results establish an essential role for the nuclear envelope-localized torsinA-LAP1 complex in hepatic VLDL secretion and suggest that the torsinA pathway participates in the pathophysiology of nonalcoholic fatty liver disease. | Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis.
Shin JY, Hernandez-Ono A, Fedotova T, Östlund C, Lee MJ, Gibeley SB, Liang CC, Dauer WT, Ginsberg HN, Worman HJ., Free PMC Article | 06/20/2020 |
| The authors show that genetic depletion of RGS9-2 mimics the D2 receptor loss of DYT1 dystonia striatum, whereas RGS9-2 overexpression rescues both receptor levels and electrophysiological responses in Dyt1 striatal neurons. | RGS9-2 rescues dopamine D2 receptor levels and signaling in DYT1 dystonia mouse models.
Bonsi P, Ponterio G, Vanni V, Tassone A, Sciamanna G, Migliarini S, Martella G, Meringolo M, Dehay B, Doudnikoff E, Zachariou V, Goodchild RE, Mercuri NB, D'Amelio M, Pasqualetti M, Bezard E, Pisani A., Free PMC Article | 08/10/2019 |
| In the Tor1a(+/Deltagag) DYT1 dystonia mouse model, long-term potentiation (LTP) appeared prematurely in a critical developmental window in striatal spiny neurons (SPNs), while long-term depression (LTD) was never recorded. | Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum.
Maltese M, Stanic J, Tassone A, Sciamanna G, Ponterio G, Vanni V, Martella G, Imbriani P, Bonsi P, Mercuri NB, Gardoni F, Pisani A., Free PMC Article | 07/13/2019 |
| the deletion of a glutamic acid codon-torsinA protein does not drastically influence Golgi morphology in neurons. | Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.
Mitchell SB, Iwabuchi S, Kawano H, Yuen TMT, Koh JY, Ho KWD, Harata NC., Free PMC Article | 04/13/2019 |
| torsinA loss elevates LINC complex levels in the proliferative zone, and that genetic reduction of LINC complexes prevents abnormal brain morphogenesis in Tor1a-/- embryos. These data show that Tor1a affects radial glial cells via a LINC complex mediated mechanism. They also predict human TOR1A disease will include incompletely penetrant defects in embryonic brain morphogenesis in cases where mutations ablate TOR1A | Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease.
Dominguez Gonzalez B, Billion K, Rous S, Pavie B, Lange C, Goodchild R. | 03/2/2019 |
| These findings are the first to demonstrate a cell autonomous requirement for torsinA in specific populations of cholinergic neurons, strengthening the connection between torsinA, cholinergic dysfunction and dystonia pathophysiology | A cell autonomous torsinA requirement for cholinergic neuron survival and motor control.
Pappas SS, Li J, LeWitt TM, Kim JK, Monani UR, Dauer WT., Free PMC Article | 01/26/2019 |
| findings support a role for torsinA function in neuronal nuclear pore biogenesis during neuronal maturation and implicate altered NPC function in dystonia pathophysiology. | TorsinA dysfunction causes persistent neuronal nuclear pore defects.
Pappas SS, Liang CC, Kim S, Rivera CO, Dauer WT., Free PMC Article | 01/12/2019 |
| TorsinA was post-transcriptionally upregulated upon acute ER stress, suggesting a role in this response. Increased basal phosphorylation of eIF2alpha in DYT1 transgenic rats was associated with abnormal response to acute ER stress. Unbiased RNA-Seq-based transcriptomic analysis of embryonic brain tissue in heterozygous and homozygous DYT1 knockin mice confirmed presence of eIF2alpha dysregulation in the DYT1 brain. | Exploring the Interaction Between eIF2α Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.
Beauvais G, Rodriguez-Losada N, Ying L, Zakirova Z, Watson JL, Readhead B, Gadue P, French DL, Ehrlich ME, Gonzalez-Alegre P. | 11/10/2018 |
| Results show that direct pathological insult to forebrain torsinA in a symptomatic mouse model of DYT1 dystonia can engage genetically normal hindbrain regions into an aberrant connectivity network. These findings have important implications for the assignment of a causative region in CNS disease. | Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia.
DeSimone JC, Pappas SS, Febo M, Burciu RG, Shukla P, Colon-Perez LM, Dauer WT, Vaillancourt DE., Free PMC Article | 05/19/2018 |
| that the deletion of a 3-base pair (DeltaGAG) sequence in the Dyt1 gene encoding torsinA has network level effects on in vivo functional connectivity and microstructural integrity across the sensorimotor cortex, basal ganglia, and cerebellum | In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.
DeSimone JC, Febo M, Shukla P, Ofori E, Colon-Perez LM, Li Y, Vaillancourt DE., Free PMC Article | 03/3/2018 |
| TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models | Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL, Qiu S, Caffall ZF, Wan Y, Pan Y, Rodriguiz RM, Wetsel WC, Badea A, Hochgeschwender U, Calakos N., Free PMC Article | 03/3/2018 |