Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 215

1.

Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies.

Pérez Ortiz JM, Orr HT.

Adv Exp Med Biol. 2018;1049:135-145. doi: 10.1007/978-3-319-71779-1_6.

PMID:
29427101
2.

Motor neuron degeneration correlates with respiratory dysfunction in SCA1.

Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, Zoghbi HY.

Dis Model Mech. 2018 Jan 29. pii: dmm.032623. doi: 10.1242/dmm.032623. [Epub ahead of print]

3.

Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

Paulson HL, Shakkottai VG, Clark HB, Orr HT.

Nat Rev Neurosci. 2017 Oct;18(10):613-626. doi: 10.1038/nrn.2017.92. Epub 2017 Aug 17. Review.

PMID:
28855740
4.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

5.

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.

Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY.

Hum Mol Genet. 2016 Dec 1;25(23):5083-5093. doi: 10.1093/hmg/ddw337.

PMID:
28007900
6.

Visualizing and mapping the cerebellum with serial optical coherence scanner.

Liu CJ, Williams KE, Orr HT, Akkin T.

Neurophotonics. 2017 Jan;4(1):011006. Epub 2016 Sep 30.

8.

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways.

Ingram M, Wozniak EAL, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT.

Neuron. 2016 Mar 16;89(6):1194-1207. doi: 10.1016/j.neuron.2016.02.011. Epub 2016 Mar 3.

9.

Tolerance is established in polyclonal CD4(+) T cells by distinct mechanisms, according to self-peptide expression patterns.

Malhotra D, Linehan JL, Dileepan T, Lee YJ, Purtha WE, Lu JV, Nelson RW, Fife BT, Orr HT, Anderson MS, Hogquist KA, Jenkins MK.

Nat Immunol. 2016 Feb;17(2):187-95. doi: 10.1038/ni.3327. Epub 2016 Jan 4.

10.

Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes.

Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY.

Elife. 2015 Dec 17;4. pii: e10891. doi: 10.7554/eLife.10891.

11.

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.

Dell'Orco JM, Wasserman AH, Chopra R, Ingram MA, Hu YS, Singh V, Wulff H, Opal P, Orr HT, Shakkottai VG.

J Neurosci. 2015 Aug 12;35(32):11292-307. doi: 10.1523/JNEUROSCI.1357-15.2015.

12.

A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1.

Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY.

Elife. 2015 May 19;4. doi: 10.7554/eLife.07558.

13.

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY.

Cell. 2015 Mar 12;160(6):1087-98. doi: 10.1016/j.cell.2015.02.012.

14.

Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology.

Öz G, Kittelson E, Demirgöz D, Rainwater O, Eberly LE, Orr HT, Clark HB.

Neurobiol Dis. 2015 Feb;74:158-66. doi: 10.1016/j.nbd.2014.11.011. Epub 2014 Nov 29.

15.

Prioritized research recommendations from the National Institute of Neurological Disorders and Stroke Parkinson's Disease 2014 conference.

Sieber BA, Landis S, Koroshetz W, Bateman R, Siderowf A, Galpern WR, Dunlop J, Finkbeiner S, Sutherland M, Wang H, Lee VM, Orr HT, Gwinn K, Ludwig K, Taylor A, Torborg C, Montine TJ; Parkinson's Disease 2014: Advancing Research, Improving Lives Conference Organizing Committee.

Ann Neurol. 2014 Oct;76(4):469-72. doi: 10.1002/ana.24261. Epub 2014 Sep 23. No abstract available.

16.

Regulation of ataxin-1 phosphorylation and its impact on biology.

Lagalwar S, Orr HT.

Methods Mol Biol. 2013;1010:201-9. doi: 10.1007/978-1-62703-411-1_13. Review.

PMID:
23754227
17.

Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1.

Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J.

J Neurosci. 2013 May 29;33(22):9328-36. doi: 10.1523/JNEUROSCI.3465-12.2013.

18.

RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.

Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JSC, Orr HT, Westbrook TF, Botas J, Zoghbi HY.

Nature. 2013 Jun 20;498(7454):325-331. doi: 10.1038/nature12204. Epub 2013 May 29.

19.

Toxic RNA as a driver of disease in a common form of ALS and dementia.

Orr HT.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7533-4. doi: 10.1073/pnas.1305239110. Epub 2013 Apr 29. No abstract available.

20.

Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum.

Ebner BA, Ingram MA, Barnes JA, Duvick LA, Frisch JL, Clark HB, Zoghbi HY, Ebner TJ, Orr HT.

J Neurosci. 2013 Mar 27;33(13):5806-20. doi: 10.1523/JNEUROSCI.6311-11.2013.

21.

The unstable repeats--three evolving faces of neurological disease.

Nelson DL, Orr HT, Warren ST.

Neuron. 2013 Mar 6;77(5):825-43. doi: 10.1016/j.neuron.2013.02.022. Review.

22.

SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis.

Orr HT.

Prog Neurobiol. 2012 Dec;99(3):179-85. doi: 10.1016/j.pneurobio.2012.04.003. Epub 2012 Apr 16. Review.

23.

Cell biology of spinocerebellar ataxia.

Orr HT.

J Cell Biol. 2012 Apr 16;197(2):167-77. doi: 10.1083/jcb.201105092. Review.

24.

Polyglutamine neurodegeneration: expanded glutamines enhance native functions.

Orr HT.

Curr Opin Genet Dev. 2012 Jun;22(3):251-5. doi: 10.1016/j.gde.2012.01.001. Epub 2012 Jan 25. Review.

25.

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua.

Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY.

Science. 2011 Nov 4;334(6056):690-3. doi: 10.1126/science.1212673.

26.

FTD and ALS: genetic ties that bind.

Orr HT.

Neuron. 2011 Oct 20;72(2):189-90. doi: 10.1016/j.neuron.2011.10.001.

27.

ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.

Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY.

Dev Cell. 2011 Oct 18;21(4):746-57. doi: 10.1016/j.devcel.2011.08.017.

28.

In vivo monitoring of recovery from neurodegeneration in conditional transgenic SCA1 mice.

Oz G, Vollmers ML, Nelson CD, Shanley R, Eberly LE, Orr HT, Clark HB.

Exp Neurol. 2011 Dec;232(2):290-8. doi: 10.1016/j.expneurol.2011.09.021. Epub 2011 Sep 22.

29.

Abnormalities in the climbing fiber-Purkinje cell circuitry contribute to neuronal dysfunction in ATXN1[82Q] mice.

Barnes JA, Ebner BA, Duvick LA, Gao W, Chen G, Orr HT, Ebner TJ.

J Neurosci. 2011 Sep 7;31(36):12778-89. doi: 10.1523/JNEUROSCI.2579-11.2011.

30.

Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1.

Hourez R, Servais L, Orduz D, Gall D, Millard I, de Kerchove d'Exaerde A, Cheron G, Orr HT, Pandolfo M, Schiffmann SN.

J Neurosci. 2011 Aug 17;31(33):11795-807. doi: 10.1523/JNEUROSCI.0905-11.2011.

31.

14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.

Lai S, O'Callaghan B, Zoghbi HY, Orr HT.

J Biol Chem. 2011 Oct 7;286(40):34606-16. doi: 10.1074/jbc.M111.238527. Epub 2011 Aug 11. Erratum in: J Biol Chem. 2013 Mar 1;288(9):6590.

32.

Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias.

Ingram MA, Orr HT, Clark HB.

Brain Res Bull. 2012 May 1;88(1):33-42. doi: 10.1016/j.brainresbull.2011.07.016. Epub 2011 Jul 23. Review.

33.

Are polyglutamine diseases expanding?

Orr HT.

Neuron. 2011 May 12;70(3):377-8. doi: 10.1016/j.neuron.2011.04.015.

34.

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model.

Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT.

Hum Mol Genet. 2011 Jun 1;20(11):2204-12. doi: 10.1093/hmg/ddr108. Epub 2011 Mar 22.

35.

Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration.

Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY.

Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2142-7. doi: 10.1073/pnas.1018748108. Epub 2011 Jan 18.

36.

SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776.

Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, Orr HT.

Neuron. 2010 Sep 23;67(6):929-35. doi: 10.1016/j.neuron.2010.08.022.

37.

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.

Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY.

PLoS Genet. 2010 Jul 8;6(7):e1001021. doi: 10.1371/journal.pgen.1001021.

38.

Nuclear ataxias.

Orr HT.

Cold Spring Harb Perspect Biol. 2010 May;2(5):a000786. doi: 10.1101/cshperspect.a000786. Review.

39.

Noninvasive detection of presymptomatic and progressive neurodegeneration in a mouse model of spinocerebellar ataxia type 1.

Oz G, Nelson CD, Koski DM, Henry PG, Marjanska M, Deelchand DK, Shanley R, Eberly LE, Orr HT, Clark HB.

J Neurosci. 2010 Mar 10;30(10):3831-8. doi: 10.1523/JNEUROSCI.5612-09.2010.

40.

Phosphorylation of ATXN1 at Ser776 in the cerebellum.

Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT.

J Neurochem. 2009 Jul;110(2):675-86. doi: 10.1111/j.1471-4159.2009.06164.x. Epub 2009 May 15.

41.

Emerging pathogenic pathways in the spinocerebellar ataxias.

Carlson KM, Andresen JM, Orr HT.

Curr Opin Genet Dev. 2009 Jun;19(3):247-53. doi: 10.1016/j.gde.2009.02.009. Epub 2009 Apr 1. Review.

42.

Characterization of the zebrafish atxn1/axh gene family.

Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT.

J Neurogenet. 2009;23(3):313-23. doi: 10.1080/01677060802399976. Epub 2008 Dec 10.

44.

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.

Zoghbi HY, Orr HT.

J Biol Chem. 2009 Mar 20;284(12):7425-9. doi: 10.1074/jbc.R800041200. Epub 2008 Oct 28. Review.

45.

Unstable nucleotide repeat minireview series: a molecular biography of unstable repeat disorders.

Orr HT.

J Biol Chem. 2009 Mar 20;284(12):7405. doi: 10.1074/jbc.R800067200. Epub 2008 Oct 28.

46.

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis.

Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY.

Nat Neurosci. 2008 Oct;11(10):1137-9. doi: 10.1038/nn.2183. Epub 2008 Aug 31.

47.

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.

Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY.

Nature. 2008 Apr 10;452(7188):713-8. doi: 10.1038/nature06731. Epub 2008 Mar 12.

48.

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.

Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY.

Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1291-6. doi: 10.1073/pnas.0711257105. Epub 2008 Jan 23.

49.

Fragile X tremor/ataxia syndrome: blame the messenger!

Swanson MS, Orr HT.

Neuron. 2007 Aug 16;55(4):535-7.

50.

Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1.

Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT.

J Neurochem. 2007 Sep;102(6):2040-8. Epub 2007 Jun 1.

Supplemental Content

Support Center