Works matching DE "TORSIN A"

Results: 19

Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0362-z

By:

Pratt, Drew;
Mente, Karin;
Rahimpour, Shervin;
Edwards, Nancy A.;
Tinaz, Sule;
Berman, Brian D.;
Hallett, Mark;
Ray-Chaudhury, Abhik

Publication type:

Article

The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress.

Published in:

BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1518-0

By:

A-Young Kim;
Jong Bok Seo;
Won-tae Kim;
Hee Jeong Choi;
Soo-Young Kim;
Morrow, Genevieve;
Tanguay, Robert M.;
Steller, Hermann;
Young Ho Koh

Publication type:

Article

Review: Genetics and neuropathology of primary pure dystonia.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 6, p. 520, doi. 10.1111/j.1365-2990.2012.01298.x

By:

Paudel, R.;
Hardy, J.;
Revesz, T.;
Holton, J. L.;
Houlden, H.

Publication type:

Article

Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.

Published in:

PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206123

By:

Mitchell, Sara B.;
Iwabuchi, Sadahiro;
Kawano, Hiroyuki;
Yuen, Tsun Ming Tom;
Koh, Jin-Young;
Ho, K. W. David;
Harata, N. Charles

Publication type:

Article

The multiple faces of TOR1A: different inheritance, different phenotype.

Published in:

2017

By:

Ginevrino, Monia;
Valente, Enza Maria

Publication type:

journal article

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Published in:

2017

By:

Kariminejad, Ariana;
Dahl-Halvarsson, Martin;
Ravenscroft, Gianina;
Afroozan, Fariba;
Keshavarz, Elham;
Goullée, Hayley;
Davis, Mark R.;
Zonooz, Mehrshid Faraji;
Najmabadi, Hossein;
Laing, Nigel G.;
Tajsharghi, Homa;
Faraji Zonooz, Mehrshid

Publication type:

journal article

Human TorsinA can function in the yeast cytosol as a molecular chaperone.

Published in:

Biochemical Journal, 2017, v. 474, n. 20, p. 3439, doi. 10.1042/BCJ20170395

By:

Adam, Ilectra;
Jossé, Lyne;
Tuite, Mick F.

Publication type:

Article

Drosophila Torsin Protein Regulates Motor Control and Stress Sensitivity and Forms a Complex with Fragile-X Mental Retardation Protein.

Published in:

Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/6762086

By:

Nguyen, Phuong;
Seo, Jong Bok;
Ahn, Hyo-Min;
Koh, Young Ho

Publication type:

Article

TorsinA regulates the LINC to moving nuclei.

Published in:

Journal of Cell Biology, 2017, v. 216, n. 3, p. 543, doi. 10.1083/jcb.201701054

By:

Starr, Daniel A.;
Rose, Lesilee S.

Publication type:

Article

Behavioral and Electrophysiological Characterization of Dyt1 Heterozygous Knockout Mice.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120916

By:

Yokoi, Fumiaki;
Chen, Huan-Xin;
Dang, Mai Tu;
Cheetham, Chad C.;
Campbell, Susan L.;
Roper, Steven N.;
Sweatt, J. David;
Li, Yuqing

Publication type:

Article

Torsin A Localization in the Mouse Cerebellar Synaptic Circuitry.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068063

By:

Puglisi, Francesca;
Vanni, Valentina;
Ponterio, Giulia;
Tassone, Annalisa;
Sciamanna, Giuseppe;
Bonsi, Paola;
Pisani, Antonio;
Mandolesi, Georgia

Publication type:

Article

The Zebrafish Homologue of the Human DYT1 Dystonia Gene Is Widely Expressed in CNS Neurons but Non- Essential for Early Motor System Development.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045175

By:

Sager, Jonathan J.;
Torres, Gonzalo E.;
Burton, Edward A.;
Bonkowsky, Joshua L.

Publication type:

Article

TorsinA and the TorsinA-Interacting Protein Printor Have No Impact on Endoplasmic Reticulum Stress or Protein Trafficking in Yeast.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022744

By:

Valastyan, Julie S.;
Lindquist, Susan

Publication type:

Article

A role for cerebellum in the hereditary dystonia DYT1.

Published in:

eLife, 2017, p. 1, doi. 10.7554/eLife.22775

By:

Fremont, Rachel;
Tewari, Ambika;
Angueyra, Chantal;
Khodakhah, Kamran

Publication type:

Article

Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.17983

By:

Demircioglu, F. Esra;
Sosa, Brian A.;
Ingram, Jessica;
Ploegh, Hidde L.;
Schwartz, Thomas U.

Publication type:

Article

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.

Published in:

eLife, 2015, p. 1, doi. 10.7554/eLife.08352

By:

Pappas, Samuel S.;
Darr, Katherine;
Holley, Sandra M.;
Cepeda, Carlos;
Mabrouk, Omar S.;
Wong, Jenny-Marie T.;
LeWitt, Tessa M.;
Paudel, Reema;
Houlden, Henry;
Kennedy, Robert T.;
Levine, Michael S.;
Dauer, William T.

Publication type:

Article

Torsins: not your typical AAA+ ATPases.

Published in:

Critical Reviews in Biochemistry & Molecular Biology, 2015, v. 50, n. 6, p. 532, doi. 10.3109/10409238.2015.1091804

By:

Rose, April E.;
Brown, Rebecca S. H.;
Schlieker, Christian

Publication type:

Article

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3080, doi. 10.1172/JCI72830

By:

Chun-Chi Liang;
Tanabe, Lauren M.;
Jou, Stephanie;
Chi, Frank;
Dauer, William T.

Publication type:

Article

Twisting mice move the dystonia field forward.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 2848, doi. 10.1172/JCI76624

By:

Petersén, Åsa;
Kirik, Deniz

Publication type:

Article