Publications

  1. Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia. Yellajoshyula D, Pappas SS, Dauer WT. Mov Disord. 2022 Jan 6. doi: 10.1002/mds.28892.

  2. A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. Yellajoshyula D, Rogers AE, Kim AJ, Kim S, Pappas SS, Dauer WT. Hum Mol Genet. 2021 Oct 23:ddab310. doi: 10.1093/hmg/ddab310.

  3. THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes. Yellajoshyula D, Pappas SS, Rogers AE, Choudhury B, Reed X, Ding J, Cookson MR, Shakkottai VG, Giger RJ, Dauer WT. PNAS. 2021 Aug 3;118(31):e2100862118. doi: 10.1073/pnas.2100862118.

  4. TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia. Li J, Levin DS, Kim AJ, Pappas SS, Dauer WT. J Clin Invest. 2021 Mar 15;131(6):e139606. doi: 10.1172/JCI139606.

  5. CNS critical periods: implications for dystonia and other neurodevelopmental disorders. Li J, Kim S, Pappas SS, Dauer WT. JCI Insight. 2021 Feb 22;6(4):e142483. doi: 10.1172/jci.insight.142483.

  6. TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models. Li J, Liang CC, Pappas SS, Dauer WT. eLife 2020;9:e54285 DOI: 10.7554/eLife.54285.

  7. Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis. Shin JY, Hernandez-Ono A, Fedotova T, Östlund C, Lee MJ, Gibeley SB, Liang CC, Dauer WT, Ginsberg HN, Worman HJ. J Clin Invest. 2019 Aug 13;130:4885-4900. doi: 10.1172/JCI129769.

  8. A cell autonomous torsinA requirement for cholinergic neuron survival and motor control. Pappas S, Li J, LeWitt T, Kim JK, Monani U, Dauer WT. eLife 2018;7:e36691 DOI: 10.7554/eLife.36691.

  9. A motif within the armadillo repeat of Parkinson's-linked LRRK2 interacts with FADD to hijack the extrinsic death pathway. Antoniou N, Vlachakis D, Memou A, Leandrou E, Valkimadi PE, Melachroinou K, Re DB, Przedborski S, Dauer WT, Stefanis L, Rideout HJ. Sci Rep. 2018 Feb 22;8(1):3455. doi: 10.1038/s41598-018-21931-8.

  10. Inherited dystonias: clinical features and molecular pathways. Weisheit CE, Pappas SS, Dauer WT. Handb Clin Neurol. 2018;147:241-254. doi: 10.1016/B978-0-444-63233-3.00016-6.

  11. TorsinA dysfunction causes persistent neuronal nuclear pore defects. Pappas SS, Liang CC, Kim S, Rivera CO, Dauer WT. Hum Mol Genet. 2018 Feb 1;27(3):407-420. doi: 10.1093/hmg/ddx405.

  12. The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. Yellajoshyula D, Liang CC, Pappas SS, Penati S, Yang A, Mecano R, Kumaran R, Jou S, Cookson MR, Dauer WT. Dev Cell. 2017 Jul 10;42(1):52-67.e4. doi: 10.1016/j.devcel.2017.06.009.

  13. Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia. DeSimone JC, Pappas SS, Febo M, Burciu RG, Shukla P, Colon-Perez LM, Dauer WT, Vaillancourt DE. Neurobiol Dis. 2017 Oct;106:124-132. doi: 10.1016/j.nbd.2017.06.015. Epub 2017 Jul 1.

  14. TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement. Saunders CA, Harris NJ, Willey PT, Woolums BM, Wang Y, McQuown AJ, Schoenhofen A, Worman HJ, Dauer WT, Gundersen GG, Luxton GW. J Cell Biol. 2017 Mar 6;216(3):657-674. doi: 10.1083/jcb.201507113. Epub 2017 Feb 27.

  15. Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points. Pappas SS, Bonifacino J, Danek A, Dauer WT, De M, De Franceschi L, DiPaolo G, Fuller R, Haucke V, Hermann A, Kornmann B, Landwehrmeyer B, Levin J, Neiman AM, Rudnicki DD, Sibon O, Velayos-Baeza A, Vonk JJ, Walker RH, Weisman LS, Albin RL. Tremor Other Hyperkinet Mov (N Y). 2017 Feb 15;7:428. doi: 10.7916/D8XD127W. eCollection 2017.

  16. Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth. Shin JY, Méndez-López I, Hong M, Wang Y, Tanji K, Wu W, Shugol L, Krauss RS, Dauer WT, Worman HJ. Hum Mol Genet. 2017 Jan 1;26(1):65-78. doi: 10.1093/hmg/ddw368.

  17. Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia. Shakkottai VG, Batla A, Bhatia K, Dauer WT, Dresel C, Niethammer M, Eidelberg D, Raike RS, Smith Y, Jinnah HA, Hess EJ, Meunier S, Hallett M, Fremont R, Khodakhah K, LeDoux MS, Popa T, Gallea C, Lehericy S, Bostan AC, Strick PL. Cerebellum. 2017 Apr;16(2):577-594. doi: 10.1007/s12311-016-0825-6.

  18. Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs. Tanabe LM, Liang CC, Dauer WT. Cell Rep. 2016 Sep 20;16(12):3322-3333. doi: 10.1016/j.celrep.2016.08.044.

  19. Endolysosomal dysfunction in Parkinson's disease: Recent developments and future challenges. Kett LR, Dauer WT. Mov Disord. 2016 Oct;31(10):1433-1443. doi: 10.1002/mds.26797. Review.

  20. A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation. Weisheit CE, Dauer WT. Hum Mol Genet. 2015 Sep 14. pii: ddv355.

  21. Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum. Goodchild RE, Buchwalter AL, Naismith TV, Holbrook K, Billion K, Dauer WT, Liang CC, Dear ML, Hanson PI. J Cell Sci. 2015 Jun 19. pii: jcs.167452.

  22. Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons. Pappas SS, Darr K, Holley SM, Cepeda C, Mabrouk OS, Wong JM, LeWitt TM, Paudel R, Houlden H, Kennedy RT, Levine MS, Dauer WT. Elife. 2015 Jun 8;4. doi: 10.7554/eLife.08352.

  23. α-Synuclein-Independent Histopathological and Motor Deficits in Mice Lacking the Endolysosomal Parkinsonism Protein Atp13a2. Kett LR, Stiller B, Bernath MM, Tasset I, Blesa J, Jackson-Lewis V, Chan RB, Zhou B, Di Paolo G, Przedborski S, Cuervo AM, Dauer WT. J Neurosci. 2015 Apr 8;35(14):5724-42.

  24. Inherited Isolated Dystonia: Clinical Genetics and Gene Function. Dauer W. Neurotherapeutics. 2014 Aug 26.

  25. The Nuclear Envelope: An Intriguing Focal Point for Neurogenetic Disease. Worman HJ, Dauer WT. Neurotherapeutics. 2014 Aug 14.

  26. TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT. J Clin Invest. 2014 Jul 1;124(7):3080-92.

  27. Nuclear envelope breakdown induced by herpes simplex virus type 1 involves the activity of viral fusion proteins. Maric M, Haugo AC, Dauer W, Johnson D, Roller RJ. Virology. 2014 Jul;460-461:128-37.

  28. Magic shotgun for Parkinson's disease? Albin RL, Dauer WT. Brain. 2014 May;137(Pt 5):1274-5.

  29. Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice. Shin JY, Le Dour C, Sera F, Iwata S, Homma S, Joseph LC, Morrow JP, Dauer WT, Worman HJ. Nucleus. 2014 May 1;5(3):260-459.

  30. Lamina-associated polypeptide 1: protein interactions and tissue-selective functions. Shin JY, Dauer WT, Worman HJ. Semin Cell Dev Biol. 2014 May;29:164-8.

  31. Author response. Bohnen N, Sarter M, Muller M, Dauer W, Albin R. Neurology. 2014 Apr 29;82(17):1568-9.

  32. Multiplying messages LRRK beneath Parkinson disease. Dauer WT, Guo M. Cell. 2014 Apr 10;157(2):291-3.

  33. Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits. Pappas SS, Leventhal DK, Albin RL, Dauer WT. Curr Top Dev Biol. 2014;109:97-169.

  34. Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Shin JY, Méndez-López I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Schulze PC, Worman HJ, Dauer WT. Dev Cell. 2013 Sep 30;26(6):591-603.

  35. Emerging common molecular pathways for primary dystonia. Ledoux MS, Dauer WT, Warner TT. Mov Disord. 2013 Jun 15;28(7):968-81. Review.

  36. Interplay of LRRK2 with chaperone-mediated autophagy. Orenstein SJ, Kuo SH, Tasset I, Arias E, Koga H, Fernandez-Carasa I, Cortes E, Honig LS, Dauer W, Consiglio A, Raya A, Sulzer D, Cuervo AM. Nat Neurosci. 2013 Apr;16(4):394-406.

  37. The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate. Santos M, Rebelo S, Van Kleeff PJ, Kim CE, Dauer WT, Fardilha M, da Cruz E Silva OA, da Cruz E Silva EF. PLoS One. 2013 Oct 7;8(10):e76788.

  38. Parkinson syndrome. Heterogeneity of etiology; heterogeneity of pathogenesis? Albin RL, Dauer WT. Neurology. 2012 Jul 17;79(3):202-3.

  39. Leucine-rich repeat kinase 2 for beginners: six key questions. Kett LR, Dauer WT. Cold Spring Harb Perspect Med. 2012 Mar;2(3):a009407. Review.

  40. LRRK2 Parkinson disease mutations enhance its microtubule association. Kett LR, Boassa D, Ho CC, Rideout HJ, Hu J, Terada M, Ellisman M, Dauer WT. Hum Mol Genet. 2012 Feb 15;21(4):890-9.

  41. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia. Tanabe LM, Martin C, Dauer WT. PLoS One. 2012;7(2):e32245.

  42. Targeted disruption of neuronal 19S proteasome subunits induces the formation of ubiquitinated inclusions in the absence of cell death. Droggiti A, Ho CC, Stefanis L, Dauer WT, Rideout HJ. J Neurochem. 2011 Nov;119(3):630-43.

  43. Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. Uluğ AM, Vo A, Argyelan M, Tanabe L, Schiffer WK, Dewey S, Dauer WT, Eidelberg D. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6638-43.

  44. Contextual automated 3D analysis of subcellular organelles adapted to high-content screening. Dorval T, Ogier A, Genovesio A, Lim HK, Kwon do Y, Lee JH, Worman HJ, Dauer W, Grailhe R. J Biomol Screen. 2010 Aug;15(7):847-57.

  45. A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Kim CE, Perez A, Perkins G, Ellisman MH, Dauer WT. Proc Natl Acad Sci U S A. 2010 May 25;107(21):9861-6.

  46. New messages in the nuclear envelope. Dauer WT, Worman HJ. Cell Cycle. 2010 Feb 15;9(4):645-6.

  47. The biology and pathology of the familial Parkinson's disease protein LRRK2. Dauer W, Ho CC. Mov Disord. 2010;25 Suppl 1:S40-3. Review.

  48. The WD40 domain is required for LRRK2 neurotoxicity. Jorgensen ND, Peng Y, Ho CC, Rideout HJ, Petrey D, Liu P, Dauer WT. PLoS One. 2009 Dec 24;4(12):e8463.

  49. The nuclear envelope as a signaling node in development and disease. Dauer WT, Worman HJ. Dev Cell. 2009 Nov;17(5):626-38. Review.

  50. Primary dystonia: molecules and mechanisms. Tanabe LM, Kim CE, Alagem N, Dauer WT. Nat Rev Neurol. 2009 Nov;5(11):598-609. Review.

  51. The Parkinson disease protein leucine-rich repeat kinase 2 transduces death signals via Fas-associated protein with death domain and caspase-8 in a cellular model of neurodegeneration. Ho CC, Rideout HJ, Ribe E, Troy CM, Dauer WT. J Neurosci. 2009 Jan 28;29(4):1011-6.

  52. A critical evaluation of the Braak staging scheme for Parkinson's disease. Burke RE, Dauer WT, Vonsattel JP. Ann Neurol. 2008 Nov;64(5):485-91.

  53. The kinase domain of mitochondrial PINK1 faces the cytoplasm. Zhou C, Huang Y, Shao Y, May J, Prou D, Perier C, Dauer W, Schon EA, Przedborski S. Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):12022-7.

  54. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Hum Mol Genet. 2008 Aug 15;17(16):2433-40.

  55. Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. Martinez-Vicente M, Talloczy Z, Kaushik S, Massey AC, Mazzulli J, Mosharov EV, Hodara R, Fredenburg R, Wu DC, Follenzi A, Dauer W, Przedborski S, Ischiropoulos H, Lansbury PT, Sulzer D, Cuervo AM. J Clin Invest. 2008 Feb;118(2):777-88.

  56. Neurotrophic factors and Parkinson's disease: the emergence of a new player? Dauer W. Sci STKE. 2007 Nov 6;2007(411):pe60.

  57. The roles of kinases in familial Parkinson's disease. Cookson MR, Dauer W, Dawson T, Fon EA, Guo M, Shen J. J Neurosci. 2007 Oct 31;27(44):11865-8. Review.

  58. Alpha-synuclein involvement in hippocampal synaptic plasticity: role of NO, cGMP, cGK and CaMKII. Liu S, Fa M, Ninan I, Trinchese F, Dauer W, Arancio O. Eur J Neurosci. 2007 Jun;25(12):3583-96.

  59. Cortical 5-HT2A receptor signaling modulates anxiety-like behaviors in mice. Weisstaub NV, Zhou M, Lira A, Lambe E, González-Maeso J, Hornung JP, Sibille E, Underwood M, Itohara S, Dauer WT, Ansorge MS, Morelli E, Mann JJ, Toth M, Aghajanian G, Sealfon SC, Hen R, Gingrich JA. Science. 2006 Jul 28;313(5786):536-40.

  60. Stiff child syndrome with mutation of DYT1 gene. Greene PE, Dauer W. Neurology. 2006 May 9;66(9):1456; author reply 1456.

  61. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Goodchild RE, Kim CE, Dauer WT. Neuron. 2005 Dec 22;48(6):923-32.

  62. 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.

  63. alpha-Synuclein produces a long-lasting increase in neurotransmitter release. Liu S, Ninan I, Antonova I, Battaglia F, Trinchese F, Narasanna A, Kolodilov N, Dauer W, Hawkins RD, Arancio O. EMBO J. 2004 Nov 10;23(22):4506-16.

  64. alpha-synuclein is required for the fibrillar nature of ubiquitinated inclusions induced by proteasomal inhibition in primary neurons. Rideout HJ, Dietrich P, Wang Q, Dauer WT, Stefanis L. J Biol Chem. 2004 Nov 5;279(45):46915-20.

  65. Lack of alpha-synuclein does not alter apoptosis of neonatal catecholaminergic neurons. Stefanis L, Wang Q, Oo T, Lang-Rollin I, Burke RE, Dauer WT.

  66. Regulation of the development of mesencephalic dopaminergic systems by the selective expression of glial cell line-derived neurotrophic factor in their targets. Kholodilov N, Yarygina O, Oo TF, Zhang H, Sulzer D, Dauer W, Burke RE. J Neurosci. 2004 Mar 24;24(12):3136-46.

  67. 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.

  68. Mouse models of torsinA dysfunction. Dauer W, Goodchild R. Adv Neurol. 2004;94:67-72. Review.

  69. Parkinson's disease: mechanisms and models. Dauer W, Przedborski S. Neuron. 2003 Sep 11;39(6):889-909. Review.

  70. Regulation of alpha-synuclein by bFGF in cultured ventral midbrain dopaminergic neurons. Rideout HJ, Dietrich P, Savalle M, Dauer WT, Stefanis L. J Neurochem. 2003 Feb;84(4):803-13.

  71. Resistance of alpha -synuclein null mice to the parkinsonian neurotoxin MPTP. Dauer W, Kholodilov N, Vila M, Trillat AC, Goodchild R, Larsen KE, Staal R, Tieu K, Schmitz Y, Yuan CA, Rocha M, Jackson-Lewis V, Hersch S, Sulzer D, Przedborski S, Burke R, Hen R. Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14524-9.