PMC Links for Gene (Select 1861) - PMC

F. Esra Demircioglu, Weili Zheng, Alexander J. McQuown, Nolan K. Maier, Nicki Watson, Iain M. Cheeseman, Vladimir Denic, Edward H. Egelman, Thomas U. Schwartz

Nat Commun. 2019; 10: 3262. Published online 2019 Jul 22. doi: 10.1038/s41467-019-11194-w

PMCID:: PMC6646356

Abstract Article PDF–3.3M

Select item 52313856.

The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis

Vasileios Siokas, Efthimios Dardiotis, Evangelia E. Tsironi, Georgios Tsivgoulis, Dimitrios Rikos, Maria Sokratous, Stylianos Koutsias, Konstantinos Paterakis, Georgia Deretzi, Georgios M. Hadjigeorgiou

PLoS One. 2017; 12(1): e0169934. Published online 2017 Jan 12. doi: 10.1371/journal.pone.0169934

PMCID:: PMC5231385

Abstract Article PDF–2.3M

Select item 41675937.

The TOR1A Polymorphism rs1182 and the Risk of Spread in Primary Blepharospasm

Giovanni Defazio, Mar Matarin, Elizabeth L. Peckham, Davide Martino, Enza M. Valente, Andrew Singleton, Anthony Crawley, Maria Stella Aniello, Francesco Brancati, Giovanni Abbruzzese, Paolo Girlanda, Paolo Livrea, Mark Hallett, Alfredo Berardelli

Mov Disord. Author manuscript; available in PMC 2014 Sep 18.

Published in final edited form as: Mov Disord. 2009 Mar 15; 24(4): 613–616. doi: 10.1002/mds.22471

PMCID:: PMC4167593

Abstract Article PDF–111K

Select item 41347608.

Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, torsinA

Jasmin Hettich, Scott D. Ryan, Osmar Norberto de Souza, Luís Fernando Saraiva Macedo Timmers, Shelun Tsai, Nadia A. Atai, Cintia C. da Hora, Xuan Zhang, Rashmi Kothary, Erik Snapp, Maria Ericsson, Kathrin Grundmann, Xandra O. Breakefield, Flávia C. Nery

Hum Mutat. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Hum Mutat. 2014 Sep; 35(9): 1101–1113. Published online 2014 Jul 17. doi: 10.1002/humu.22602

PMCID:: PMC4134760

Abstract Article PDF–2.0M

Select item 36944829.

Obsessive-Compulsive Disorder is not a Clinical Manifestation of the DYT1 Dystonia Gene

Gary A. Heiman, Ruth Ottman, Rachel J. Saunders-Pullman, Laurie J. Ozelius, Neil J. Risch, Susan B. Bressman

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2013 Jun 27.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5; 0(3): 361–364. doi: 10.1002/ajmg.b.30431

PMCID:: PMC3694482

Abstract Article PDF–39K

Select item 347153910.

Cholinergic Dysfunction Alters Synaptic Integration between Thalamostriatal and Corticostriatal Inputs in DYT1 Dystonia

Giuseppe Sciamanna, Annalisa Tassone, Georgia Mandolesi, Francesca Puglisi, Giulia Ponterio, Giuseppina Martella, Graziella Madeo, Giorgio Bernardi, David G. Standaert, Paola Bonsi, Antonio Pisani

J Neurosci. 2012 Aug 29; 32(35): 11991–12004. doi: 10.1523/JNEUROSCI.0041-12.2012

PMCID:: PMC3471539

Abstract Article PDF–4.2M

Select item 319644611.

A Functional Role for TorsinA in Herpes Simplex Virus 1 Nuclear Egress

Martina Maric, Jianqiang Shao, Randi J. Ryan, Chun-Shu Wong, Pedro Gonzalez-Alegre, Richard J. Roller

J Virol. 2011 Oct; 85(19): 9667–9679. doi: 10.1128/JVI.05314-11

PMCID:: PMC3196446

Abstract Article PDF–4.7M

Select item 317199012.

THE DYT1 CARRIER STATE INCREASES ENERGY DEMAND IN THE OLIVOCEREBELLAR NETWORK

Yu Zhao, Nutan Sharma, Mark S. LeDoux

Neuroscience. Author manuscript; available in PMC 2012 Mar 17.

Published in final edited form as: Neuroscience. 2011 Mar 17; 177: 183–194. Published online 2011 Jan 14. doi: 10.1016/j.neuroscience.2011.01.015

PMCID:: PMC3171990

Abstract Article PDF–2.8M

Select item 316065513.

Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum

Abigail B Vander Heyden, Teresa V Naismith, Erik L Snapp, Phyllis I Hanson

EMBO J. 2011 Aug 17; 30(16): 3217–3231. Published online 2011 Jul 22. doi: 10.1038/emboj.2011.233

PMCID:: PMC3160655

Abstract Article PDF–2.3M

Select item 309789014.

Impaired sequence learning in dystonia mutation carriers: a genotypic effect

Maren Carbon, Miklos Argyelan, Maria Felice Ghilardi, Paul Mattis, Vijay Dhawan, Susan Bressman, David Eidelberg

Brain. 2011 May; 134(5): 1416–1427. Published online 2011 Apr 22. doi: 10.1093/brain/awr060

PMCID:: PMC3097890

Abstract Article PDF–562K

Select item 286156815.

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells

Jeffrey W. Hewett, Flávia C. Nery, Brian Niland, Pei Ge, Pamela Tan, Philipp Hadwiger, Bakhos A. Tannous, Dinah W.Y. Sah, Xandra O. Breakefield

Hum Mol Genet. 2008 May 15; 17(10): 1436–1445. Published online 2008 Feb 7. doi: 10.1093/hmg/ddn032

PMCID:: PMC2861568

Abstract Article PDF–650K

Select item 277481716.

Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia

Janine N. Martin, Thomas B. Bair, Nicole Bode, William T. Dauer, Pedro Gonzalez-Alegre

Neuroscience. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Neuroscience. 2009 Dec 1; 164(2): 563–572. Published online 2009 Aug 6. doi: 10.1016/j.neuroscience.2009.07.068

PMCID:: PMC2774817

Abstract Article PDF–1010K

Select item 274158117.

Genotype–phenotype interactions in primary dystonias revealed by differential changes in brain structure

B. Draganski, S.A. Schneider, M. Fiorio, S. Klöppel, M. Gambarin, M. Tinazzi, J. Ashburner, K.P. Bhatia, R.S.J. Frackowiak

Neuroimage. 2009 Oct 1; 47(4-8): 1141–1147. doi: 10.1016/j.neuroimage.2009.03.057

PMCID:: PMC2741581

Abstract Article

Select item 266105618.

High-throughput mutational analysis of TOR1A in primary dystonia

Jianfeng Xiao, Robert W Bastian, Joel S Perlmutter, Brad A Racette, Samer D Tabbal, Morvarid Karimi, Randal C Paniello, Andrew Blitzer, Sat Dev Batish, Zbigniew K Wszolek, Ryan J Uitti, Peter Hedera, David K Simon, Daniel Tarsy, Daniel D Truong, Karen P Frei, Ronald F Pfeiffer, Suzhen Gong, Yu Zhao, Mark S LeDoux

BMC Med Genet. 2009; 10: 24. Published online 2009 Mar 11. doi: 10.1186/1471-2350-10-24