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TorsinA participates in endoplasmic reticulum-associated degradation.

Nery FC, Armata IA, Farley JE, Cho JA, Yaqub U, Chen P, da Hora CC, Wang Q, Tagaya M, Klein C, Tannous B, Caldwell KA, Caldwell GA, Lencer WI, Ye Y, Breakefield XO.

Nat Commun. 2011 Jul 12;2:393. doi: 10.1038/ncomms1383.


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.

Hum Mol Genet. 2008 May 15;17(10):1436-45. doi: 10.1093/hmg/ddn032. Epub 2008 Feb 7.


Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

Misbahuddin A, Placzek MR, Taanman JW, Gschmeissner S, Schiavo G, Cooper JM, Warner TT.

Mov Disord. 2005 Apr;20(4):432-40.


The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.

Chen P, Burdette AJ, Porter JC, Ricketts JC, Fox SA, Nery FC, Hewett JW, Berkowitz LA, Breakefield XO, Caldwell KA, Caldwell GA.

Hum Mol Genet. 2010 Sep 15;19(18):3502-15. doi: 10.1093/hmg/ddq266. Epub 2010 Jun 28. Erratum in: Hum Mol Genet. 2012 Mar 1;21(5):1201.


Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.

Hewett JW, Tannous B, Niland BP, Nery FC, Zeng J, Li Y, Breakefield XO.

Proc Natl Acad Sci U S A. 2007 Apr 24;104(17):7271-6. Epub 2007 Apr 11.


TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO.

J Cell Sci. 2008 Oct 15;121(Pt 20):3476-86. doi: 10.1242/jcs.029454. Epub 2008 Sep 30.


TorsinA protein degradation and autophagy in DYT1 dystonia.

Giles LM, Li L, Chin LS.

Autophagy. 2009 Jan;5(1):82-4. Epub 2009 Jan 12.


The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.

Zacchi LF, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, Thomas PJ, Zolkiewski M, Brodsky JL.

J Biol Chem. 2014 May 2;289(18):12727-47. doi: 10.1074/jbc.M113.529123. Epub 2014 Mar 13.


Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

Hettich J, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.

Hum Mutat. 2014 Sep;35(9):1101-13. doi: 10.1002/humu.22602. Epub 2014 Jul 17.


Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion.

Naismith TV, Dalal S, Hanson PI.

J Biol Chem. 2009 Oct 9;284(41):27866-74. doi: 10.1074/jbc.M109.020164. Epub 2009 Aug 3.


Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope.

Giles LM, Chen J, Li L, Chin LS.

Hum Mol Genet. 2008 Sep 1;17(17):2712-22. doi: 10.1093/hmg/ddn173. Epub 2008 Jun 14.


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

Goodchild RE, Dauer WT.

Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):847-52. Epub 2004 Jan 7.


Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO.

Hum Mol Genet. 2000 May 22;9(9):1403-13.


Regulation of Torsin ATPases by LAP1 and LULL1.

Zhao C, Brown RS, Chase AR, Eisele MR, Schlieker C.

Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):E1545-54. doi: 10.1073/pnas.1300676110. Epub 2013 Apr 8.


Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.

Hewett JW, Zeng J, Niland BP, Bragg DC, Breakefield XO.

Neurobiol Dis. 2006 Apr;22(1):98-111. Epub 2005 Dec 19.


Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors.

Bragg DC, Camp SM, Kaufman CA, Wilbur JD, Boston H, Schuback DE, Hanson PI, Sena-Esteves M, Breakefield XO.

Neuroscience. 2004;125(3):651-61.


The ubiquitin ligase F-box/G-domain protein 1 promotes the degradation of the disease-linked protein torsinA through the ubiquitin-proteasome pathway and macroautophagy.

Gordon KL, Glenn KA, Bode N, Wen HM, Paulson HL, Gonzalez-Alegre P.

Neuroscience. 2012 Nov 8;224:160-71. doi: 10.1016/j.neuroscience.2012.08.023. Epub 2012 Aug 20.


Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.

Cao S, Hewett JW, Yokoi F, Lu J, Buckley AC, Burdette AJ, Chen P, Nery FC, Li Y, Breakefield XO, Caldwell GA, Caldwell KA.

Dis Model Mech. 2010 May-Jun;3(5-6):386-96. doi: 10.1242/dmm.003715. Epub 2010 Mar 11.


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

Bragg DC, Kaufman CA, Kock N, Breakefield XO.

Mol Cell Neurosci. 2004 Dec;27(4):417-26.


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