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Results: 1 to 20 of 112

1.

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.

PMID:
17428918
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
18258738
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
20584926
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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

Gonzalez-Alegre P, Paulson HL.

J Neurosci. 2004 Mar 17;24(11):2593-601.

PMID:
15028751
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
18971629
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
21750546
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
18827015
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
10814722
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
19651773
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
20223934
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.

Giles LM, Li L, Chin LS.

J Biol Chem. 2009 Aug 7;284(32):21765-75. doi: 10.1074/jbc.M109.004838. Epub 2009 Jun 17.

PMID:
19535332
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

TorsinA and dystonia: from nuclear envelope to synapse.

Granata A, Schiavo G, Warner TT.

J Neurochem. 2009 Jun;109(6):1596-609. doi: 10.1111/j.1471-4159.2009.06095.x. Epub 2009 Apr 8. Review.

PMID:
19457118
[PubMed - indexed for MEDLINE]
13.

Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia.

Gonzalez-Alegre P, Bode N, Davidson BL, Paulson HL.

J Neurosci. 2005 Nov 9;25(45):10502-9.

PMID:
16280588
[PubMed - indexed for MEDLINE]
Free Article
14.

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.

PMID:
16361107
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
15593317
[PubMed - indexed for MEDLINE]
16.

The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.

Burdette AJ, Churchill PF, Caldwell GA, Caldwell KA.

Cell Stress Chaperones. 2010 Sep;15(5):605-17. doi: 10.1007/s12192-010-0173-2. Epub 2010 Feb 19.

PMID:
20169475
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.

Kock N, Naismith TV, Boston HE, Ozelius LJ, Corey DP, Breakefield XO, Hanson PI.

Hum Mol Genet. 2006 Apr 15;15(8):1355-64. Epub 2006 Mar 14.

PMID:
16537570
[PubMed - indexed for MEDLINE]
Free Article
18.

LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.

Vander Heyden AB, Naismith TV, Snapp EL, Hodzic D, Hanson PI.

Mol Biol Cell. 2009 Jun;20(11):2661-72. doi: 10.1091/mbc.E09-01-0094. Epub 2009 Apr 1.

PMID:
19339278
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Exploring the influence of torsinA expression on protein quality control.

Gordon KL, Glenn KA, Gonzalez-Alegre P.

Neurochem Res. 2011 Mar;36(3):452-9. doi: 10.1007/s11064-010-0363-4. Epub 2010 Dec 16.

PMID:
21161590
[PubMed - indexed for MEDLINE]
20.

The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.

Goodchild RE, Dauer WT.

J Cell Biol. 2005 Mar 14;168(6):855-62.

PMID:
15767459
[PubMed - indexed for MEDLINE]
Free PMC Article

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