PubMed Citation for id: 1645839

Year	Number of Results
2000	1
2004	3
2005	1
2006	1
2008	1
2009	1
2010	1
2016	1
2024	0

1

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Rittiner JE, et al. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8. Neuron. 2016. PMID: 27939583 Free PMC article.

2

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Calakos N, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Züchner S. Calakos N, et al. J Med Genet. 2010 Sep;47(9):646-50. doi: 10.1136/jmg.2009.072082. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955557 Free PMC article.

3

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

Hewett JW, Nery FC, Niland B, Ge P, Tan P, Hadwiger P, Tannous BA, Sah DW, Breakefield XO. Hewett JW, et al. Hum Mol Genet. 2008 May 15;17(10):1436-45. doi: 10.1093/hmg/ddn032. Epub 2008 Feb 7. Hum Mol Genet. 2008. PMID: 18258738 Free PMC article.

4

RNAi blocks DYT1 mutant torsinA inclusions in neurons.

Kock N, Allchorne AJ, Sena-Esteves M, Woolf CJ, Breakefield XO. Kock N, et al. Neurosci Lett. 2006 Mar 13;395(3):201-5. doi: 10.1016/j.neulet.2005.10.098. Epub 2005 Dec 5. Neurosci Lett. 2006. PMID: 16332410

5

Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA.

Bragg DC, Kaufman CA, Kock N, Breakefield XO. Bragg DC, et al. Mol Cell Neurosci. 2004 Dec;27(4):417-26. doi: 10.1016/j.mcn.2004.07.009. Mol Cell Neurosci. 2004. PMID: 15555920

6

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

Gonzalez-Alegre P, Paulson HL. Gonzalez-Alegre P, et al. J Neurosci. 2004 Mar 17;24(11):2593-601. doi: 10.1523/JNEUROSCI.4461-03.2004. J Neurosci. 2004. PMID: 15028751 Free PMC article.

7

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

Goodchild RE, Dauer WT. Goodchild RE, et al. Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):847-52. doi: 10.1073/pnas.0304375101. Epub 2004 Jan 7. Proc Natl Acad Sci U S A. 2004. PMID: 14711988 Free PMC article.

8

Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.

Kustedjo K, Bracey MH, Cravatt BF. Kustedjo K, et al. J Biol Chem. 2000 Sep 8;275(36):27933-9. doi: 10.1074/jbc.M910025199. J Biol Chem. 2000. PMID: 10871631 Free article.

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