Gitler Lab



113. Becker, L.A. and A.D. Gitler, Disease protein muscles out of the nucleus. Nature, 2018. Oct 31. pdf

112. Boeynaems, S. and A.D. Gitler, Pour Some Sugar on TDP(-43), Mol Cell, 2018. 71(5): 649-651. pdf

111. Gitler, A.D. and J.D. Fryer, RNA-Binding Proteins: A matter of balance, eLife, 2018. 7:e40034. pdf

110. Couthouis, J. and A.D. Gitler, These violent repeats have violent extends, Neurol Genet, 2018. 4:e247. pdf

109. Zhang, Y.J., T. Gendron, M.T.W. Ebbert, A.D. O'Raw, M. Yue, K. Jansen-West, X. Zhang, M. Prudencio, J. Chew, C.N. Cook, L.M. Daughrity, J. Tong, Y. Song, S.R. Pickles, M. Castanedes-Casey, A. Kurti, R. Rademakers, B. Oskarsson, D.W. Dickson, W. Hu, A.D. Gitler, J.D. Fryer, L. Petrucelli, Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis, Nat Med, 2018. June 25. pdf

108. Lu, C., L. Li, H. Dong, Q. Wei, Z. Liu, N. Wang, A.D. Gitler, Z. Wu, Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients, J Mol Med, 2018. June 11. pdf 

107. Huang, B. and A.D. Gitler, Hunting the G-unit in Huntington's, Brain, 2018. 6(1):1586-1589. pdf

106. Becker, L.A. and A.D. Gitler, Ataxin-2 is Droppin' Some Knowledge, Neuron, 2018. 98(4):673-675. pdf

105. Boeynaems, S. and A.D. GitlerPhosphorylation Leads the Way for Protein Aggregate Disassembly, Dev Cell, 2018. 45(3):279-281. pdf

104. Guo, L., H.J. Kim, H. Wang, J. Monaghan, F. Freyermuth, J.C. Sung, K. O’Donovan, C.M. Fare, Z. Diaz, N. Singh, Z.C. Zhang, M. Coughlin, E.A. Sweeny, M.E. DeSantis, M.E. Jackrel, C.B. Rodell, J.A. Burdick, O.D. King, A.D. Gitler, C. Lagier-Tourenne, U.B. Pandey, Y.M. Chook, J.P. Taylor, J. Shorter, Nuclear-import receptors reverse aberrant phase transitions of RNA-binding proteins with prion-like domains, Cell, 2018. 173(3):677-692. pdf

103. Zhang, K., J. G. Daigle, K.M. Cunningham, A.N. Coyne, K. Ruan, J.C. Grima, K.E. Bowen, H. Wadhwa, P. Yang, F. Rigo, J.P. Taylor, A.D. Gitler, J.D. Rothstein, T.E. Lloyd, Stress granule assembly disrupts nucleocytoplasmic transport, Cell, 2018. April 5. pdf

102. Nicolas, A. et al., Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, Neuron, 2018. 97(6):1268-1283. pdf

101. Chai, N. and A.D. Gitler, Yeast screen for modifiers of C9orf72 poly(Glycine-Arginine) dipeptide repeat toxicityFEMS Yeast Res2018. Mar 5. pdf

100. Kramer, N.J.*, M.S. Haney*, D.W. Morgens, A. Jovičić, J. Couthouis, A. Li, J. Ousey, R. Ma, G. Bieri, C.K. Tsui, Y. Shi, N.T. Hertz, M. Tessier-Lavigne, J.K. Ichida, M.C. Bassik#, A.D. Gitler#, CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9orf72 dipeptide repeat protein toxicity, Nat Genet, 2018. 50(4):603-612.  *These authors contributed equally, #Co-corresponding authors. pdf

99. Liu, X., J. He, F.B. Gao, A.D. Gitler, D. Fan, The Epidemiology and Genetics of Amyotrophic Lateral Sclerosis in China, Brain Res, 2018. Mar 1. pdf.


98. Jin, M., G.G. Fuller, T. Han, Y. Yao, A.F. Alessi, M.A. Freeberg, N.P. Roach, J.J. Moresco, A. Karnovsky, M. Baba, J.R. Yates 3rd, A.D. Gitler, K. Inoki, D.J. Klionsky, J.K. Kim, Glycolytic Enzymes Coalesce in G Bodies under Hypoxic Stress, Cell Rep, 2017. 20(4):895-908. pdf

97. Auburger, G., N.E. Sen, D. Meierhofer, A. Başak, A.D. Gitler, Efficient Prevention of Neurodegenerative Diseases by Depletion of the Starvation Response Factor Ataxin-2, Trends Neurosci, 2017. pii: S0166-2236(17)30116-9. pdf

96. Joly P.H. Vignaud, J. Di Martino, M. Ruiz, R. Garin, L. Restier, A. Belmalih, C. Marchal, C. Cullin, B. Arveiler, P. Fergelot, A.D. Gitler, A. Lachaux, J. Couthouis J, M. Bouchecareilh, ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency, PLoS One, 2017. 12(6):e0179369.

95. Petrucelli, L. and A.D. Gitler, Unlocking the Mystery of ALS, Sci Am, 2017. 316(6): 46-51. pdf

94. Gitler, A.D., P. Dhillon, J. Shorter, Neurodegenerative disease: models, mechanisms, and a new hopeDis Model Mech, 2017. 10, 499-502 doi:10.1242/dmm.030205. pdf

93. Becker, L.A., B. Huang, G. Bieri, R. Ma, D.A. Knowles, P. Jafar-Nejad, J. Messing, H.J. Kim, A. Soriano, G. Auburger, S.M. Pulst, J.P. Taylor, F. Rigo, and A.D. Gitler, Therapeutic reduction of ataxin 2 extends lifespan and reduces pathology in TDP-43 mice, Nature, 2017. 544(7650): 367-761. pdf

92. Bieri, G., A.D. Gitler, M. Brahic, Internalization, axonal transport and release of fibrillar forms of alpha-synuclein, Neurobiol Dis, 2017. March 16. pdf.

91. Gitler A.D. and D.F. Jarosz, Old moms say, no Sir. Science, 2017. 355(6330): 1126-1127. pdf

90. Jovičić, A. and A.D. Gitler, Distinct repertoires of microRNAs present in mouse astrocytes compared to astrocyte-secreted exosomes, PLoS One2017, 12(2):e0171418. pdf

89. Kramer, N.J. and A.D. GitlerRaise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy, Neuron, 2017, 93:3-5. pdf

88. Sproviero, W., A. Shatunov, D. Stahl, M. Shoai, W. van Rheenen, A.R. Jones, S. Al-Sarraj, P.M. Andersen, N.M. Bonini, F.L. Conforti, P. Van Damme, H. Daoud, M. Del Mar Amador, I. Fogh, M. Forzan, B. Gaastra, C. Gellera, A.D. Gitler, J. Hardy, P. Fratta, V. La Bella, I. Le Ber, T. Van Langenhove, S. Lattante, Y.-C. Lee, A. Malaspina, V. Meininger, S. Millecamps, R. Orrell, R. Rademakers, W. Robberecht, G. Rouleau, O.A. Ross, F. Salachas, K. Sidle, B.N. Smith, B.-W. Soong, G. Sorarù, G. Stevanin, E. Kabashi, C. Troakes, C. van Broeckhoven, J.H. Veldink, L. van den Berg, C.E. Shaw, J.F. Powell, A. Al-Chalabi, ATXN2 Trinucleotide Repeat Length Correlates with Risk of ALSNeurobiol Aging, 2017, doi: 10.1016/j.neurobiolaging.2016.11.010. pdf


87. Shorter, J. and A.D. GitlerSusan Lee Lindquist (1949-2016), Nature, 2016, 540(7631):40. pdf

86. Abeliovich, A. and A.D. Gitler, Defects in trafficking bridge Parkinson’s disease pathology and genetics, Nature, 2016. 539(7628):207-216. pdf

85.  Kramer, N.J.*, Y. Carlomagno*, Y. Zhang*, S. Almeida, C.N. Cook, T.F. Gendron, M. Prudencio, M. Van Blitterswijk, V. Belzil, J. Couthouis, J.W. Paul III, L.D. Goodman, L. Daughrity, J. Chew, A. Garrett, L. Pregent, K. Jansen-West, L.J. Tabassian, R. Rademakers, K. Boylan, N.R. Graff-Radford, K.A. Josephs, J.E. Parisi, D.S. Knopman, R.C. Petersen, B.F. Boeve, N. Deng, Y. Feng, T.H. Cheng, D.W. Dickson, S.N. Cohen, N.M. Bonini, C.D. Link, F.B. Gao, L. Petrucelli#, A.D. Gitler#, Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts, Science, 2016. 353(6300):708-712. *These authors contributed equally, #Co-corresponding authors. pdf

84Kramer, N.J. and A.D. GitlerRegrowing axons with alternative splicing, eLife, 2016. 5:e18707pdf

83.  Dikiy, I., B. Fauvet, A. Jovičić, A. Mahul-Mellier, C. Desobry, F. El-Turk, A.D. Gitler, H.  Lashuel, D. Eliezer, Semisynthetic and in vitro phosphorylation of alpha-synuclein at Y39 promotes functional partly-helical membrane-bound states resembling those induced by PD mutations, ACS Chem Biol, 2016. June 29. pdf

82. Lee S., Y. Shang, S.A. Redmond, A. Urisman, A. A. Tang, K.H. Li, A.L. Burlingame, R.A. Pak, A. Jovičić, A.D. Gitler, J. Wang, N.S. Gray, W.W. Seeley,  T. Siddique T, E.H. Bigio, V.M. Lee, J.Q. Trojanowski, J.R. Chan, E.J. Huang, Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis, Neuron, 2016. 91(1):41-55. pdf

81. Jovičić, A., J.W. Paul, A.D. Gitler, Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia, J Neurochem, 2016. April 17. pdf

80. Williams, K.L., S. Topp, S. Yang, B. Smith, J.A. Fifita, S.T. Warraich, K.Y. Zhang, N. Farrawell, C. Vance, X. Hu, A. Chesi, C.S. Leblond, V. Sundaramoorthy, C. Dobson-Stone, A. Lee, S.L. Rayner, M.P. Molloy, M. van Blitterswijk, D.W. Dickson, R.C. Petersen, N.R. Graff-Radford, B.F. Boeve, M.E. Murray, C. Pottier, E. Don, C. Winnick, E.P. McCann, A. Hogan, H. Daoud, A. Levert, P.A. Dion, J. Mitsui, H. Ishiura, Y.  Takahashi, J. Goto, J. Kost, C. Gellera, A. Soragia Gkazi, J. Miller, J. Stockton, W.S. Brooks, K. Boundy, M. Polak, J. Luis Muñoz-Blanco, J. Esteban-Pérez, A. Rábano, O. Hardiman, K.E. Morrison, N. Ticozzi, V. Silani, J. de Belleroche, J.D. Glass, J.B.J. Kwok, G.J. Guillemin, R.S. Chung, S. Tsuji, R.H. Brown Jr, A. García-Redondo, R. Rademakers, J.E. Landers, A.D. Gitler, G.A Rouleau, N.J. Cole, J.J. Yerbury, J.D. Atkin, C.E. Shaw, G.A. Nicholson, and I.P. Blair, CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia, Nat Comm, 2016. 7:11253. pdf

79. Gitler, A.D. and H. Tsuiji, There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS, Brain Res, 2016. April 5. pdf

78. Boeynaems, S., E. Bogaert, E. Michiels, I. Gijselinck, A. Sieben, A. Jovičić, G. De Baets, W. Scheveneels, J. Steyaert, I. Cuijt, K.J. Verstrepen, P. Callaerts, F. Rousseau, J. Schymkowitz, M. Cruts, C. Van Broeckhoven, P. Van Damme, A.D. Gitler, W. Robberecht, L. Van Den Bosch, Drosophila screen connects nuclear transport defects to DPR pathology in c9ALS/FTD, Sci Rep, 2016. 6:20877. pdf

77. Brahic, M., L. Bousset, G. Bieri, R. Melki, A.D. Gitler, Axonal Transport and Secretion of Fibrillar Forms of alpha-synuclein, Aß42 Peptide and HTTExon 1, Acta Neuropathol, 2016. 131(4):539-548. pdf

76. Margulis, N.G., J.D. Wilson, C.M. Bentivoglio, N. Dhungel, A.D. Gitler, C. Barlowe, Analysis of COPII vesicles indicates a role for the Emp47-Ssp120 complex in transport of cell surface glycoproteins, Traffic, 2015. 17(3):191-210. pdf


75.  Coyne, A.N., S.B. Yamada, B.B. Siddegowda, P.S Estes, B.L. Zaepfel, J.S. Johannesmeyer, D.B Lockwood, L.T. Pham, M.P Hart, J.A. Cassel, B. Freibaum, A.V. Boehringer, J.P. Taylor, A.B. Reitz, A.D. Gitler, D.C. Zarnescu, Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation, Hum Mol Genet, 2015. 24(24):6886-6898. pdf

74.  Jovičić, A., J. Mertens, S. Boeynaems, E. Bogaert, N. Chai, S.B. Yamada, J.W. Paul, III, S. Sun, J.R. Herdy, G. Bieri, N.J. Kramer, F.H. Gage, Ludo Van Den Bosch, W. Robberecht, A.D. Gitler, Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS, Nat Neurosci, 2015. 18(9): 1226-1229. pdf

73. Figley, M.D. and A.D. Gitler, Neurodegeneration. A Leg Up on TDP-43, Curr Biol, 2015. 25(16): R728-R731. pdf

72. Becker, L.A. and A.D. Gitler, RNA and protein granules: It's all starting to come together, eLife, 2015. 4:e09853. pdf

71. Cirulli, E.T., B.N. Lasseigne, S. Petrovski, P.C. Sapp, P.A. Dion, C.S. Leblond, J. Couthouis, Y-F. Lu, Q. Wang, B.J. Krueger, Z. Ren, J. Keebler, Y. Han, S.E. Levy, B.E. Boone, J.R. Wimbish, L.L. Waite, A.L. Jones, J.P. Carulli, A.G. Day-Williams, J.F. Staropoli, W.W. Xin, A. Chesi, A.R. Raphael, D. McKenna-Yasek, J. Cady, J.M.B. Vianney de Jong, K.P. Kenna, B.N. Smith, S. Topp, J. Miller, A. Gkazi, FALS Sequencing Consortium, A. Al-Chalabi, L.H. van den Berg, J. Veldink, V. Silani, N. Ticozzi, C.E. Shaw, R.H. Baloh, S. Appel, E. Simpson, C. Lagier-Tourenne, S.M. Pulst, S. Gibson, J.Q. Trojanowski, L. Elman, L. McCluskey, M. Grossman, N.A. Shneider, W.K. Chung, J.M. Ravits, J.D. Glass, K.B. Sims, V.M. Van Deerlin, T. Maniatis, S.D. Hayes, A. Ordureau, S. Swarup, J. Landers, F. Baas, A. S. Allen, R.S. Bedlack, J.W. Harper, A.D. Gitler, G.A. Rouleau, R.H. Brown Jr., M.B. Harms, G.M. Cooper, T. Harris, R.M. Myers, D.B. Goldstein, Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways, Science, 2015. 347(6229): 1436-1441. pdf

70. Dhungel N., S. Eleuteri, L. Li, N.J. Kramer, J.W. Chartron, B. Spencer, K. Kosberg, J.A. Fields, K. Stafa, A. Adame, H. Lashuel, J. Frydman, K. Shen, E. Masliah, A.D. Gitler, Parkinson’s Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-SynucleinNeuron, 2015. 85(1): 76-87. pdf 


69. Couthouis, J.*, A.R. Raphael*, R. Daneshjou, A.D. Gitler, Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis, PLoS Genet, 2014. 10(10): e1004704*These authors contributed equally. pdf

68. Paul, J.W. III and A.D. Gitler, Clogging information flow in ALS. Science, 2014. 345(6201): 1118-1119. pdf

67. Figley, M.D., G. Bieri, R.M. Kolaitis, J.P. Taylor, A.D. Gitler, Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics, J Neurosci, 2014.  34(24): 8083-8097. pdf

66. Guo, L., B.I. Giasson, A. Glavis-Bloom, M.D. Brewer, J. Shorter, A.D. Gitler, X. Yang, A cellular system that degrades misfolded proteins through sequential SUMOylation and ubiquitination, Mol Cell, 2014. 55(1): 15-30. pdf

65. Raphael, A.R.*, J. Couthouis*, S. Sakamuri, C. Siskind, H. Vogel, J.W. Day, A.D. Gitler, Congenital Muscular Dystrophy and Generalized Epilepsy Caused by GMPPB Mutations, Brain Res, 2014. April 28.  *These authors contributed equally. pdf

64. Fares, M.-B., N.A. Bouziad, I. Dikiy, M.M. Kamdem, A. Jovicic, A. Kiely, J.L. Holton, S.-J. Lee, A.D. Gitler, D. Eliezer, and H.A. Lashuel, The Novel Parkinsons Disease Linked Mutation G51D Attenuates In Vitro Aggregation and Membrane Binding of α-Synuclein, and Enhances its Secretion and Nuclear Localization, Hum Mol Genet, 2014. April 11. pdf

63. Akimoto, C., A.E. Volk, M. van Blitterswijk, M. Van Den Broeck, C.S. Leblond, S. Lumbroso, W. Camu, B. Neitzel, O. Onodera, W. van Rheenen, S. Pinto, M. Weber, B. Smith, M. Proven, K. Talbot, P. Keagle, A. Chesi, A. Ratti, J. van der Zee, H. Alstermark, A. Birve, D. Calini, A. Nordin, D.C. Tradowsky, W. Just, H. Daoud, S. Angerbauer, M. DeJesus-Hernandez, T. Konno, A. Lloyd-Jani, M. de Carvalho, K. Mouzat, J.E. Landers, J.H. Veldink, V. Silani, A.D. Gitler, C.E. Shaw, G.A. Rouleau, L.H. van den Berg, C. Van Broeckhoven, R. Rademakers, P.M. Andersen, C. Kubisch, A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories, J Med Genet, 2014. 51(6):419-424. pdf

62. Jovičić A. and A.D. Gitler, TDP-43 in ALS: Stay on Target...Almost There, Neuron, 2014. 81(3): 463-465. pdf 

61. Couthouis J.*, A.R. Raphael*, C. Siskind*, A.R. Findlay, J.D. Buenrostro, W.J. Greenleaf, H. Vogel, J.W. Day, K.M. Flanigan, and A.D. Gitler, Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy, Neuromuscul Disord, 2014. 24(5): 431-435. *These authors contributed equally. pdf
60. Kim H.J., A.R. Raphael, E.S. LaDow, L. McGurk, R. Weber, J.Q. Trojanowski, V. M.-Y. Lee, S. Finkbeiner, A.D. Gitler, N.M. Bonini, Therapeutic modulation of stress granule-associated eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. Nat Genet, 2014. 46(2): 152-160. pdf

59. Figley, M.D., A. Thomas, A.D. Gitler, Evaluating non-coding nucleotide repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging, 2014. 5(4):936.e1-4. pdf.


58. Aguzzi, A.* and A.D. Gitler*, A Template for New Drugs Against Alzheimer's Disease. Cell, 2013. 154(6): 1182-1184. *Co-corresponding authors. pdf

57. Staahl, B.T., J. Tang, W. Wu, A. Sun, A.D. Gitler, A. Yoo, G.R. Crabtree, Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SS18 with CREST and Integration with Neural Developmental Pathways. J Neurosci, 2013. 33(25): 10348-10361. pdf

56. Chesi, A.*, B.T. Staahl, A. Jovičić, J. Couthouis, M. Fasolino, A.R. Raphael, T. Yamazaki, L. Elias, M. Polak, C. Kelly, K.L. Williams, J.A. Fifita, N.J. Maragakis, G.A. Nicholson, O.D. King, R. Reed, G.R. Crabtree, I.P. Blair, J.D. Glass, and A.D. Gitler*, Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci, 2013. 16(7): 851–855.  *Co-corresponding authors. pdf

55. Li, Y.R.*, O.D. King, J. Shorter*, A.D. Gitler*, Stress granules as crucibles of ALS pathogenesis, J Cell Biol, 2013. 201(3): 361-372. *Co-corresponding authors. pdf

54. Figley, M.D. and A.D. GitlerYeast genetic screen reveals novel therapeutic strategy for ALS, Rare Diseases, 2013. 1(1): e24420. (Featured on the cover) pdf

53. Kim, H.J., N.C. Kim, Y.D. Wang, E.A. Scarborough, J. Moore, Z. Diaz, K.S. MacLea, B. Freibaum, S. Li, A. Molliex, A.P. Kanagaraj, R. Carter, K.B. Boylan, A.M. Wojtas, R. Rademakers, J.L. Pinkus, S.A. Greenberg, J.Q. Trojanowski, B.J. Traynor, B.N. Smith, S. Topp, A.S. Gkazi, J. Miller, C.E. Shaw, M. Kottlors, J. Kirschner, A. Pestronk, Y.R. Li, A.F. Ford, A.D. Gitler, M. Benatar, O.D. King, V.E. Kimonis, E.D. Ross, C.C. Weihl, J. Shorter, and J.P. Taylor, Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature2013. 495(7442): 467-473. pdf

52. Chuang, R.S. and A.D. Gitler, Parallel PARKing: Parkinson’s genes function in common pathway. Neuron, 2013. 77(3): 377-379. pdf


51. Armakola, M.*, M.J. Higgins*, M.D. Figley, S.J. Barmada, E.A. Scarborough, Z. Diaz, X. Fang, J. Shorter, N.J. Krogan, S. Finkbeiner, R.V. Farese Jr.#, A.D. Gitler#, Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nat Genet2012. 44(12): 1302-1309. * These authors contributed equally, # Co-corresponding authors. pdf

50. Gitler, A.D., TDP-43 and FUS/TLS yield a target-rich haul in ALS. Nat Neurosci, 2012. 15(11):1467-9. pdf

49. Weisberg, S.J., R. Lyakhovetsky, A. Werdiger, A.D. Gitler, Y. Soen, D. Kaganovich, Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity. Proc Natl Acad Sci USA, 2012. 109(39):15811-6. 

48. Gitler, A.D.* and R. Lehmann*, Modeling Human Disease. Science, 2012. 337(6092):269. *Co-corresponding authors. pdf

47. Hart, M.P. and A.D. GitlerALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modificationsJ Neurosci, 2012. 32 (27):9133-9142. pdf

46. Hart, M.P., J. Brettschneider, V.M. Lee, J.Q. Trojanowski, A.D. Gitler, Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions. Acta Neuropathol, 2012. 124 (2):221-230. pdf

45. Couthouis, J., M.P. Hart, R. Erion, Z. Diaz, T. Nakaya, F. Ibrahim, H.J. Kim, J. Mojsilovic-Petrovic, D. Clay-Falcone, L. Elman, L. McCluskey, R. Greene, R.G. Kalb, V.M. Lee, J.Q. Trojanowski, G.A. Nicholson, I.P. Blair, O.D. King, N.M. Bonini, V.M. Van Deerlin, Z. Mourelatos, J. Shorter, A.D. GitlerEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet, 2012 21(13):2899-2911.  pdf

44. Chesi, A., A. Kilaru, X. Fang, A.A. Cooper, A.D. Gitler, The Role of the Parkinson's Disease Gene PARK9 in Essential Cellular Pathways and the Manganese Homeostasis Network in Yeast. PLoS One, 2012. 7(3):e34178. pdf

43. King O.D.*, A.D. Gitler*, J. Shorter*, The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res, 2012. 1462:61-80. *Co-corresponding authors.  pdf

42. Gispert S., A. Kurz, S. Waibel, P. Bauer, I. Liepelt, C. Geisen, A.D. Gitler, T. Becker, M. Weber, D. Berg, P.M. Andersen, R. Krüger, O. Riess, A.C. Ludolph, G. Auburger, The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis2012. 45(1):356-361.  pdf


41. Couthouis, J.*, M.P. Hart*, J. Shorter*, M. DeJesus-Hernandez, R. Erion, R.E. Oristano, X.A. Liu, D. Ramos, N. Jethava, D. Hosangadi, J. Epstein, A. Chiang, Z. Diaz, T. Nakaya, F. Ibrahim , H.J. Kim, J.A. Solski, K.L. Williams, J. Mojsilovic-Petrovic, C. Ingre, K. Boylan, N. Graff-Radford, D. Dickson , D. Clay-Falcone, L. Elman, L. McCluskey, R. Greene, R.G. Kalb, V.M.Y. Lee, J.Q. Trojanowski, A.C. Ludolph, W. Robberecht, P.M. Andersen, G.A. Nicholson , I.P. Blair , O.D. King , N.M. Bonini, V. Van Deerlin, R. Rademakers , Z. Mourelatos, A.D. Gitler, A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci USA, 2011. 108 (52) 20881-20890. *These authors contributed equally. (Feature Article; Featured on the Cover) pdf

40. Gitler A.D., Another reason to exercise. Science, 2011. 334(6056):606-607. pdf

39. Liu-Yesucevitz L., G. Bassell, A.D. Gitler, A. Hart, E. Klann, J. Richter, S. Warren, B. Wolozin, Local RNA Translation at the Synapses and in Disease. J Neurosci, 201131(45):16086-16093. pdf

38. Gitler, A.D.# and J. Shorter#, RNA-binding proteins with prion-like domains in ALS and FTLD-U. Prion, 2011. 5(3):179-187. #Co-corresponding authors. (Featured on the cover) pdf

37. Fleming, M. and A.D. Gitler, High-throughput yeast plasmid overexpression screen. J Vis Exp, 2011. 53. doi: 10.3791/2836. link to video  

36. Bonini, N.M.#, A.D. Gitler#, Model organisms reveal insight into human neurodegenerative disease: Ataxin-2 intermediate length polyglutamine expansions are a risk factor for ALS. J Mol Neurosci, June 2011. #Co-corresponding authors. pdf

35. Sun, Z.*, Z. Diaz*, X. Fang, M.P. Hart, M. Armakola, A. Chesi, J. Shorter#, A.D. Gitler#, Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol, 2011. 9(4): e1000614.  *These authors contributed equally, #Co-corresponding authors. pdf

34. Yu, Z., Y. Zhu, A.S. Chen-Plotkin, D. Clay-Falcone , L. McCluskey, L. Elman, R.G. Kalb, J.Q. Trojanowski, V. M.-Y. Lee , V.M. Van Deerlin, A.D. Gitler#, N.M. Bonini#, PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One, 20116(3): e17951. #Co-corresponding authors. pdf

33. Konopka C.A., M.N. Locke, P.S. Gallagher, N. Pham, M.P. Hart, C.J. Walker, A.D. Gitler, R.G. Gardner. A yeast model for polyalanine-expansion aggregation and toxicity. Mol Biol Cell, 2011. 22(12):1971-1984.

32. Lee, T., Y.R. Li, A. Chesi, M.P. Hart, D. Ramos, N. Jethava, D. Hosangadi, J. Epstein, B. Hodges, N.M. Bonini#, A.D. Gitler#, Evaluating trinucleotide repeat expansions in ALS. Neurology200. 76(24):2062-2065. #Co-corresponding authors. pdf

31. Lee, T.*, Y.R. Li*, C. Ingre, M. Weber, T. Grehl, O. Gredal, M. de Carvalho, T. Meyer, O. Tysnes, G. Auburger, S. Gispert, N.M. Bonini, P.M. Andersen, A.D. Gitler, Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet, 2011. 20(9):1697-1700. *These authors contributed equally. (Featured on the cover) pdf

30. Armakola, M.*, M.P. Hart*, A.D. GitlerTDP-43 toxicity in yeastMethods, 2011. 53(3): 238-245. * These authors contributed equally pdf


29. Elden*, A.C., H.J. Kim*, M.P. Hart*, A.S. Chen-Plotkin*, B.S. Johnson, X. Fang, M. Armakola, F. Geser, R. Greene, M. Lu, A. Padmanabhan, D. Clay, L. McCluskey, L. Elman, D. Juhr, P.J. Gruber, U. Rüb, G. Auburger, J.Q. Trojanowski, V. M.-Y. Lee, V.M. Van Deerlin, N.M. Bonini#, A.D. Gitler#, Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature, 2010. 466(7310):1069-1075. * These authors contributed equally, #Co-corresponding authors pdf

28. Xiong, Y., C.E. Coombes, A. Kilaru, A.D. Gitler, W.J. Bowers, V.L. Dawson, T.M. Dawson, D.J. Moore, GTPase Activity Plays a Key Role in the Pathobiology of LRRK2PLoS Genet, 2010. 6(4): p. e1000902. pdf

27. Cushman*, M., B.S. Johnson*, O.D. King, A.D. Gitler#, J. Shorter#Prion-like disorders: blurring the divide between transmissibility and infectivityJ Cell Sci, 2010. 123(8):1191-1201. These authors contributed equally#Co-corresponding authors pdf    


26. Johnson, B.S., D. Snead, J.J. Lee, J.M. McCaffery, J. Shorter#A.D. Gitler#TDP-43 is intrinsically aggregation-prone and ALS-linked mutations accelerate aggregation and increase toxicityJ Biol Chem, 2009. 284(30): p. 20329-20339. #Co-corresponding authors  pdf

25. Gitler, A.D., Disease models and mechanisms in the classroom. Dis Model Mech, 2009. 2(3-4):103-106. (Featured in a Podcast) pdf

24. Yeger-Lotem E., L. Riva, L.J. Su, A.D. Gitler, A.G. Cashikar, O.D. King, P.K. Auluck, M.L. Geddie, J.S. Valastyan, D.R. Karger, S. Lindquist, E. Fraenkel, Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity. Nat Genet, 2009 41(3):316-323pdf

23. Gitler A.D.*, A. Chesi*, M.L. Geddie*, K.E. Strathearn, S. Hamamichi, K.J. Hill, K.A. Caldwell, G.A. Caldwell, A.A. Cooper, J.C-R. Rochet, S. Lindquist, α−Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Nat Genet, 2009 41(3):308-315. * These authors contributed equally pdf

22. Rappley, I., A.D. Gitler, P.E. Selvy, M.J. Lavoie, B.D. Levy, H.A. Brown, S. Lindquist, D.J. Selkoe, Evidence that alpha-Synuclein Does Not Inhibit Phospholipase D. Biochemistry, 2009 48(5):1077-1083. pdf


21. Sun, Z. and A.D. Gitler, Discovery and characterization of three novel synuclein genes in zebrafish. Dev Dyn, 2008 237(9):2490-2495. (Featured on the cover) pdf

20. Johnson B.S., J.M. McCaffery, S. Lindquist, A.D. Gitler, A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity. Proc Natl Acad Sci USA, 2008, 17:6439-44. pdf

19. Gitler, A.D.*, Bevis, B.J.*, J. Shorter, K. Strathearn, S. Hamamichi, J. Su, K.A. Caldwell, G.A. Caldwell, J.C. Rochet, J.M. McCaffery, C. Barlowe, S. Lindquist, The Parkinson’s disease protein α−synuclein disrupts cellular Rab homeostasis. Proc Natl Acad Sci USA, 2008, 1:145-50. * These authors contributed equally pdf

18. Gitler, A.D., Beer and bread to brains and beyond: Can yeast cells teach us about neurodegenerative disease? NeuroSignals, 2008, 16:52–62. (Featured on the cover) pdf


17. Alberti, S.*, A.D. Gitler*, S. Lindquist, A suite of yeast Gateway vectors for high-throughput genetic analysis. Yeast, 2007, 24(10):913-9. * These authors contributed equally pdf

16. Gitler, A.D.* and J. Shorter*, Prime Time for α−Synuclein. J. Neuroscience, 2007, 27:2433-2434. * Co-corresponding authors pdf


15. Wu J, M. O'Donnell, A.D. Gitler, P.S. Klein, Kermit 2/XGIPC, an IGF1 receptor interacting protein, is required for IGF signaling in Xenopus eye development. Development, 2006, 133(18):3651-60. pdf

14. Cooper, A.A.*, A.D. Gitler*, A. Cashikar, C. Haynes, K. Hill, B. Bhullar, K. Liu, K. Xu, K.E. Strathearn, F. Liu, S. Cao, K.A. Caldwell, G.A. Caldwell, G. Marsischky, J. LaBaer, R.D. Kolodner, J.C. Rochet, N.M. Bonini, and S. Lindquist, α−Synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science, 2006. 313:324-328. * These authors contributed equally pdf


13. Engleka, K.A., A.D. Gitler, M. Zhang, D.D. Zhou, F.A. High, and J.A. Epstein, Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives. Dev Biol, 2005. 280(2): p. 396-406. pdf


12. Torres-Vazquez, J.*, A.D. Gitler*, S.D. Fraser*, J.D. Berk, N.P. Van, M.C. Fishman, S. Childs, J.A. Epstein, and B.M. Weinstein, Semaphorin-plexin signaling guides patterning of the developing vasculature. Dev Cell, 2004. 7(1): p. 117-23. * These authors contributed equally pdf

11. Gitler, A.D., M.M. Lu, and J.A. Epstein, PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovascular development. Dev Cell, 2004. 7(1): p. 107-16. pdf

10. Gitler, A.D.*, Y. Kong*, J.K. Choi, Y. Zhu, W.S. Pear, and J.A. Epstein, Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia. Pediatr Res, 2004. 55(4): p. 581-4. * These authors contributed equally (Featured on the cover) pdf


9. Gitler, A.D. and J.A. Epstein, Regulating heart development: the role of Nf1. Cell Cycle, 2003. 2(2): p. 96-8. (Featured on the cover) pdf

8. Gitler, A.D., M.M. Lu, Y.Q. Jiang, J.A. Epstein, and P.J. Gruber, Molecular markers of cardiac endocardial cushion development. Dev Dyn, 2003. 228(4): p. 643-50. pdf

7. Gitler, A.D.*, Y. Zhu*, F.A. Ismat, M.M. Lu, Y. Yamauchi, L.F. Parada, and J.A. Epstein, Nf1 has an essential role in endothelial cells. Nat Genet, 2003. 33(1): p. 75-9. * These authors contributed equally pdf

6. Kochilas, L.K., V. Potluri, A. Gitler, K. Balasubramanian, and A.J. Chin, Cloning and characterization of zebrafish tbx1. Gene Expr Patterns, 2003. 3(5): p. 645-51. pdf

5. Kook, H., J.J. Lepore, A.D. Gitler, M.M. Lu, W. Wing-Man Yung, J. Mackay, R. Zhou, V. Ferrari, P. Gruber, and J.A. Epstein, Cardiac hypertrophy and histone deacetylase-dependent transcriptional repression mediated by the atypical homeodomain protein Hop. J Clin Invest, 2003. 112(6): p. 863-71. pdf


4. Gitler, A.D., C.B. Brown, L. Kochilas, J. Li, and J.A. Epstein, Neural crest migration and mouse models of congenital heart disease. Cold Spring Harb Symp Quant Biol, 2002. 67: p. 57-62. pdf

3. Chen, F., H. Kook, R. Milewski, A.D. Gitler, M.M. Lu, J. Li, R. Nazarian, R. Schnepp, K. Jen, C. Biben, G. Runke, J.P. Mackay, J. Novotny, R.J. Schwartz, R.P. Harvey, M.C. Mullins, and J.A. Epstein, Hop is an unusual homeobox gene that modulates cardiac development. Cell, 2002. 110(6): p. 713-23. pdf


2. Lu, M.M., F. Chen, A. Gitler, J. Li, F. Jin, X.K. Ma, and J.A. Epstein, Cloning and expression analysis of murine lupin, a member of a novel gene family that is conserved through evolution and associated with Lupus inclusions. Dev Genes Evol, 2000. 210(10): p. 512-7. pdf 

1. Gunatilaka, A.A., V.J. Paul, P.U. Park, M.P. Puglisi, A.D. Gitler, D.S. Eggleston, R.C. Haltiwanger, and D.G. Kingston, Apakaochtodenes A and B: two tetrahalogenated monoterpenes from the red marine alga Portieria hornemannii. J Nat Prod, 1999. 62(10): p. 1376-8. pdf