Preprints

1. Zeng, Y., A. Lovchykova, T. Akiyama, C. Liu, C. Guo, V.M. Jawahar, O. Sianto, A. Calliari, M. Prudencio, D.W. Dickson, L. Petrucelli, A.D. Gitler, TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes, bioRxiv, 2024. pdf

2. Pasquini, L., F.L. Pereira, S. Seddighi, Y. Zeng, Y. Wei, I. Illán-Gala, S.C. Vatsavayai, A. Friedberg, A.J. Lee, J.A. Brown, S. Spina, L.T. Grinberg, D.W. Sirkis, L.W. Bonham LW, J.S. Yokoyama, A.L. Boxer, J.H. Kramer, H.J. Rosen, J. Humphrey, A.D. Gitler, B.L. Miller, K.S. Pollard, M.E. Ward, W.W. Seeley, FTLD targets brain regions expressing recently evolved genes, medRxiv, 2023. pdf

3. Boeynaems, S.*, X.R. Ma, V. Yeong, G.M. Ginell, J.H. Chen, J.A. Blum, L. Nakayama, A. Sanyal, A. Briner, D. Van Haver, J. Pauwels, A. Ekman, H.B. Schmidt, K. Sundararajan, L. Porta, K. Lasker, C. Larabell, M.A.F. Hayashi, A. Kundaje, F. Impens, A. Obermeyer, A.S. Holehouse, A.D. Gitler*, Aberrant phase separation is a common killing strategy of positively charged peptides in biology and human disease, bioRxiv, 2023. *Co-corresponding authors. pdf

4. Aikio, M., H.J. Wobst, H.M. Odeh, B.L. Lee, B. Class, T.A. Ollerhead, K.L. Mack, A.F. Ford, E.M. Barbieri, R.R. Cupo, L.E. Drake, N. Castello, A. Baral, J. Dunlop, A.D. Gitler, A. Javaherian, S. Finkbeiner, D.G. Brown, S.J. Moss1, N.J. Brandon, and J. Shorter, Opposing roles of p38α-mediated phosphorylation and arginine methylation in driving TDP-43 proteinopathy, bioRxiv, 2021. pdf

2024

162. Calliari, A., L.M. Daughrity, E.A. Albagli, P. Castellanos Otero, M. Yue, K. Jansen-West, N.N. Islam, T. Caulfield, B. Rawlinson, M. DeTure, C. Cook, N.R. Graff-Radford, G.S. Day, B.F. Boeve, D.S. Knopman, R.C. Petersen, K.A. Josephs, B. Oskarsson, A.D. Gitler, D.W. Dickson, T.F. Gendron, M. Prudencio, M.E. Ward, Y.J. Zhang, L. Petrucelli, HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases, Mol Neurodegener. 2024. 19(1):29. doi: 10.1186/s13024-024-00718-8. pdf

161. Smith, J.J., S.R. Taylor, J.A. Blum, W. Feng, R. Collings, A.D. Gitler, D.M. Miller III, P. Kratsios, A molecular atlas of adult C. elegans motor neurons reveals ancient diversity delineated by conserved transcription factor codes, Cell Rep, 2024. Feb 29. pdf

160. Chemparathy, A., Y.L. Guen, Y. Zeng, J. Gorzynski, T.D. Jensen, C. Yang, N. Kasireddy, L. Talozzi, M. Belloy, I. Stewart, A.D. Gitler, A.D. Wagner, E. Mormino, V.W. Henderson, T. Wyss-Coray, E. Ashley, C. Cruchaga, M.D. Greicius, A 3′UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP, Neurol Genet, 2024. Feb 6. pdf

159. Gautier, O. and A.D. Gitler, It’s me, hi, I solved the problem, it’s TF-seqFISH, Cell Res, 2024. Jan 5. pdf

2023

158. Gautier, O.*, J.A. Blum, J.*, Maksymetz, D. Chen, C. Schweingruber, I. Mei, A. Hermann, D.H. Hackos, E. Hedlund, J. Ravits, A.D. Gitler, Challenges of profiling motor neuron transcriptomes from human spinal cord, Neuron, 2023. 111(23):3739-3741. *These authors contributed equally. pdf

157. Lu, J., Z. Li, A.D. Gitler, B. Lu*. Drugging "undruggable" neurodegenerative disease targets with small molecules, Sci Bull, 2023. July 7. Co-corresponding authors. pdf

156. Boeynaems S.*, Y. Dorone, Y. Zhuang, A. Marian, V. Shabardina, G. Huang, A. Marian, G. Kim, A. Sanyal, N.-E. Sen, D. Griffith, R. Docampo, K. Lasker, I. Ruiz-Trillo, G. Auburger, A.S. Holehouse, E. Kabashi, Y. Lin, A.D. Gitler*, Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates, Mol Cell, 2023. 83(12): 2020-2034. *Co-corresponding authors. pdf

155. Bonham, L.W, E.G. Geier, D.W. Sirkis, J.K. Leong, E.M. Ramos, Q. Wang, A. Karydas, S.E. Lee, V.E. Sturm, R.P. Sawyer, A. Friedberg, J. K. Ichida, A.D. Gitler, L. Sugrue, M. Cordingley, W. Bee, E. Weber, J. Kramer, K.P. Rankin, H.J. Rosen, A.L. Boxer, W.W. Seeley, J. Ravits, L. Miller, J.S. Yokoyama, Radiogenomics of C9orf72 expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment, J Neurosci, 2023. 43(2):333-345. pdf

2022

154. Guo, C. and A.D. Gitler, Rnq1! You are still dangerous, but you can be my wingman anytime, Mol Cell, 2022, 82(2): 4194-4196. pdf

153. Dadgar-Kiani, E.*, G. Bieri*, R. Melki, A.D. Gitler#, J.H. Lee#, Mesoscale connections and gene expression empower whole-brain modeling of α-synuclein spread, aggregation, and decay dynamics, Cell Rep, 2022. 41(6):111631. *These authors contributed equally, #Co-corresponding authors. pdf

152. Kim, G., L. Nakayama, J.A. Blum, T. Akiyama, S. Boeynaems, M. Chakraborty, J. Couthouis, E. Tassoni-Tsuchida, C.M. Rodriguez, M.C. Bassik, A.D. Gitler, Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2, Cell Rep, 2022. 41(4): 111508. pdf

151. Rodriguez, C.M., S.C. Bechek, G.L. Jones, L. Nakayama, T. Akiyama, G. Kim, D.E. Solow-Cordero, S.M. Strittmatter, A.D. Gitler, Targeting RTN4/NoGo-Receptor reduces levels of ALS protein ataxin-2, Cell Rep, 2022. 41(4): 111505. pdf

150. Lasker, K*#., S. Boeynaems*, V. Lam, D. Scholl, E. Stainton, A. Briner, M. Jacquemyn, D. Daelemans, A. Deniz, E. Villa, A.S. Holehouse, A.D. Gitler#, L. Shapiro#, The material properties of a bacterial-derived biomolecular condensate tune biological function in natural and synthetic systems, Nat Commun, 2022. https://doi.org/10.1038/s41467-022-33221-z. *These authors contributed equally, #Co-corresponding authors. pdf

149. Kim, G. and A.D. Gitler, APOE told me put my fat in the bag and nobody gets hurt, Cell, 2022, 185(13): 2201-2203. pdf

148. Guttenplan, K.A. and A.D. Gitler, Why you always in a mood? Pumpin’ polyP, actin’ brand new, Neuron, 2022, 110(10): 1603-1605. pdf

147. Akiyama, T.*, Koike, Y.*, Petrucelli, L.#, A.D. Gitler#, Cracking the cryptic code in ALS and FTD: towards therapeutic targets and biomarkers, Clin Transl Med, 2022. May 12. *These authors contributed equally, #Co-corresponding authors. pdf

146. Blum, J.A. and A.D. Gitler, Singling out motor neurons in the age of single-cell transcriptomics, Trends Genet, 2022, 38(9):904-919. (Featured on the Cover). pdf

145. Ma, X.R.* M. Prudencio*, Y. Koike*, S.C. Vatsavayai, G. Kim, F. Harbinski, A. Briner, C.M. Rodriguez, C. Guo, T. Akiyama, H.B. Schmidt, B.B. Cummings, D.W. Wyatt, K. Kurylo, G. Miller, S. Mekhoubad, N. Sallee, G. Mekonnen, L. Gasner, J.D. Rubien, K. Jansen-West, C. Cook, S. Pickles, B. Oskarsson, Neil R. Graff-Radford, B.F. Boeve, D.S. Knopman, R.C. Petersen, D.W. Dickson, J. Shorter, S. Myong, E. M. Green, W.W. Seeley, L. Petrucelli#, A.D. Gitler#, TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A, Nature, 2022, 603(7899):124-130. *These authors contributed equally, #Co-corresponding authors. pdf

144. Napolioni, V., CA. Fredericks, Y. Kim, D. Channappa, R.R. Khan, L.H. Kim, F. Zafar, J. Couthouis, G.A. Davidzon, E.C. Mormino, A.D. Gitler, T.J. Montine, B. Schüle, M.D. Greicius, Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders, Biomedicines, 2022, 10(1):160. pdf

2021

143. Eger, S.J., Y. Le Guen, R.R. Khan, J.N. Hall, G. Kennedy, G. Zaharchuk, J. Couthouis, W.S. Brooks, D. Velakoulis, V. Napolioni, M.E. Belloy, C.L. Dalgard, E.C. Mormino, A.D. Gitler, M.D. Greicius, Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease, Neurol Genet, 2021, 8(1):e647. pdf

142. Aaron Gitler, Q&A, Neuron, 2021, 109(21):3352-3354. pdf

141. Boeynaems, S. and A.D. Gitler, You come at the misfolded proteins, you best not miss, Trends Biochem Sci, 2021. Oct 12. pdf

140. Maor-Nof, M., Z. Shipony, G.K. Marinov, W.J. Greenleaf, A.D. Gitler, An optimized ATAC-seq protocol for genome-wide mapping of active regulatory elements in primary mouse cortical neurons, STAR Protoc, 2021, 10.1016/j.xpro.2021.100854. pdf

139. Guttenplan, K.A., M.K. Weigel, P. Prakash, P.R. Wijewardhane, P. Hasel, U. Rufen-Blanchette, A.E. Münch, J.A. Blum, J. Fine, M.C. Neal, K.D. Bruce, A.D. Gitler, G. Chopra, S.A. Liddelow, B.A. Barres, Neurotoxic reactive astrocytes induce cell death via saturated lipids, Nature, 2021, 599(7883):102-107. pdf

138. Dorone, Y.*, S. Boeynaems*, B. Jin, F. Bossi, E. Flores, E. Lazarus, E. Michiels, M. De Decker, P. Baatsen, A.S. Holehouse, S. Sukenik, A.D. Gitler#, S.Y. Rhee#, A prion-like protein regulator of seed germination undergoes hydration-dependent phase separation, Cell, 2021, 184(16):4284-4298. (Featured on the Cover) *These authors contributed equally, #Co-corresponding authors. pdf

137. Fumagalli, L., F.L. Young, S. Boeynaems, M. De Decker, A.R. Mehta, A. Swijsen, R. Fazal, W. Guo, M. Moisse, J. Beckers, L. Dedeene, B.T. Selvaraj, T. Vandoorne, V. Madan, M. van Blitterswijk, D. Raitcheva, A. McCampbell, K. Poesen, A.D. Gitler, P. Koch, P.V. Berghe, D.R. Thal, C. Verfaillie, S. Chandran, L. Van Den Bosch, S.L. Bullock, P. Van Damme, Sci Adv, 2021, 7(15):eabg3013. pdf

136. Blum, J.A., S. Klemm, J.L. Shadrach, K.A. Guttenplan, L. Nakayama, A. Kathiria, P.T. Hoang, O. Gautier, J.A. Kaltschmidt, W.J. Greenleaf, A.D. Gitler, Single-cell transcriptomic analysis of the adult mouse spinal cord reveals molecular diversity of autonomic and skeletal motor neurons, Nat Neurosci, 2021, 24(4):572-583. pdf

135. Maor-Nof, M., Z. Shipony, L. Nakayama, Y. Zhang, J. Couthouis, J.A. Blum, P. Castruita, R. Lopez-Gonzalez, G. Linares, K. Ruan, G. Ramaswami, D.J. Simon, A. Nof, K. Han, N. Sinnott-Armstrong, M.C. Bassik, D.H. Geschwind, M. Tessier-Lavigne, L.D. Attardi, T. Lloyd, J. Ichida, F.B. Gao, W.J. Greenleaf, J. Yokohama, L. Petrucelli, A.D. Gitler, p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR), Cell, 2021, 184(3):689-708. pdf

2020

134. Tang, R., C.W. Murray, I.L. Linde, N.J. Kramer, Z. Lyu, M.K. Tsai, L.C. Chen, H. Cai, A.D. Gitler, E. Engleman, W. Lee, M.M. Winslow, A versatile system to record cell-cell interactions, Elife, 2020, 9:e61080. doi: 10.7554/eLife.61080.

133. Kim, G.*, O. Gautier*, E. Tassoni-Tsuchida, X.R. Ma, A.D. Gitler, ALS Genetics: Gains, Losses, and Implications for Future Therapies, Neuron, 2020. 108(5):822-842. *These authors contributed equally

132. Gautier, O. and A.D. Gitler, It's not all about those bases, Nature, 2020, 585(7823):34-35.

131. Course, M.M., K. Gudsnuk, S.N. Smukowski, K. Winston, N. Desai, J.P. Ross, A. Sulovari, C.V. Bourassa, D. Spiegelman, J. Couthouis, C.E. Yu, D.W. Tsuang, S. Jayadev, M.A. Kay, A.D. Gitler, N. Dupre, E.E. Eichler, P.A. Dion, G.A. Rouleau, P.N. Valdmanis, Evolution of a Human-Specific Tandem Repeat Associated with ALS, Am J Hum Genet, 2020, S0002-9297(20)30234-2. doi: 10.1016/j.ajhg.2020.07.004.

130. Guttenplan K.A*, M.K. Weigel, D.I. Adler, J. Couthouis, S.A. Liddelow, A.D. Gitler*, B.A. Barres, Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model, Nat Commun, 2020, 11(1):3753. * Co-corresponding authors

129. Johnson A.G., R.A. Flynn, C.P. Lapointe, Y.S. Ooi, M.L. Zhao, C.M. Richards, W. Qiao, S.B. Yamada, J. Couthouis, A.D. Gitler, J.E. Carette, J.D. Puglisi, A memory of eS25 loss drives resistance phenotypes, Nucleic Acids Res, 2020, 48(13):7279-7297.

128. Pourhaghighi R., P.E.A. Ash, S. Phanse, F. Goebels, L.Z.M. Hu, S. Chen, Y. Zhang, S.D. Wierbowski, S. Boudeau, M.T. Moutaoufik, R.H. Malty, E. Malolepsza, K. Tsafou, A. Nathan, G. Cromar, H. Guo, A.A. Abdullatif, D.J. Apicco, L.A. Becker, A.D. Gitler, S.M. Pulst, A. Youssef, R. Hekman, P.C. Havugimana, C.A. White, B.C. Blum, A. Ratti, C.D. Bryant, J. Parkinson, K. Lage, M. Babu, H. Yu, G.D. Bader, B. Wolozin, A. Emili, BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain, Cell Syst, 2020, 10(4):333-350.

127. Gitler, A.D., J. Shorter, T. Ha, S. Myong, Just Took a DNA Test, Turns Out 100% Not That Phase. Mol Cell, 2020, 78(2):193-194.

126. Chai N., M.S. Haney, J. Couthouis, D.W. Morgens, A. Benjamin, K. Wu, J. Ousey, S. Fang, S. Finer, M.C. Bassik, A.D. Gitler, Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72. Brain Res, 2020. 1728:146601.

125. Gittings L.M., S. Boeynaems, D. Lightwood, A. Clargo, S. Topia, L. Nakayama, C. Troakes, D.M.A. Mann, A.D. Gitler, T. Lashley, A.M. Isaacs, Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity, Acta Neuropathol, 2020. 39(2):407-410.

2019

124. Liu, Z.J., H.X. Lin, Q. Wei, Q.J. Zhang, C.X. Chen, Q.Q. Tao, G.L. Liu, W. Ni, A.D. Gitler, H.F. Li, Z.Y. Wu, Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis, Aging Dis, 2019. 10(6):1199-1206.

123. Boeynaems, S. and A.D. Gitler, Axons gonna ride ‘til they can’t no more, Neuron, 2019. 104(2):179-181.

122. Yamada, S.B., T.F. Gendron, T. Niccoli, N.R. Genuth, R. Grosely, Y. Shi, I. Glaria, N.J. Kramer, L. Nakayama, S. Fang, T.J.I. Dinger, A. Thoeng, G. Rocha, M. Barna, J.D. Puglisi, L. Partridge, J.K. Ichida, A.M. Isaacs, L. Petrucelli, A.D. Gitler, RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats, Nat Neurosci, 2019. 22(9): 1383–1388.

121. Goodman, L.D., M. Prudencio, N.J. Kramer, L.F. Martinez-Ramirez, A.R. Srinivasan, M. Lan, M.J. Parisi, Y. Zhu, J. Chew, C.N. Cook, A. Berson, A.D. Gitler, L. Petrucelli & N.M. Bonini, Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD, Nat Neurosci, 2019. 22(6): 863-874.

120. Ullah I., N. Kakar, I. Schrauwen, S. Hussain, I. Chakchouk, K. Liaqat, A. Acharya, N. Wasif, R.L.P. Santos-Cortez, S. Khan, A. Aziz, K. Lee, J. Couthouis, D. Horn, B.K. Kragesteen, M. Spielmann, H. Thiele, D.A. Nickerson, M.J. Bamshad, A.D. Gitler, J. Ahmad, M. Ansar, G. Borck, W. Ahmad, S.M. Leal, Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly, Hum Genet, 2019. 138(6):593-600.

119. Gelfman S., S.A. Dugger, C. Araujo Martins Moreno, Z. Ren, C.J. Wolock, N. Shneider, H. Phatnani, E.T. Cirulli, B.N. Lasseigne, T. Harris, T. Maniatis, G. Rouleau, R.H. Brown, A.D. Gitler, R.M. Myers, S. Petrovski, A. Allen, D.B. Goldstein, M.B. Harms, A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS, Genome Res, 2019. 29(5): 809-818.

118. Cheng C, K. Yang, X. Wu, Y. Zhang, S. Shan, A. Gitler, A. Ghosh A, Z. Qiu, Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice, Transl Neurodegener, 2019. 8:13. doi: 10.1186/s40035-019-0152-1.

117. Boeynaems, S.*, A.S. Holehouse, V. Weinhardt, D. Kovacs, J. Van Lindt, C. Larabell, L. Van Den Bosch, R. Das, P. Tompa, R. V. Pappu*, A.D. Gitler*, Spontaneous driving forces give rise to protein-RNA condensates with coexisting phases and complex material properties, Proc Natl Acad Sci USA, 2019. 116(16):7889-7898. * Co-corresponding authors

116. Bieri, G., M. Brahic, L. Bousset, J. Couthouis, N.J. Kramer, R. Ma, L. Nakayama, M. Monbureau, E. Defensor, B. Schüle, M. Shamloo, R. Melki, A.D. Gitler, LRRK2 modifies α-syn pathology and spread in mouse models and human neurons, Acta Neuropathol, 2019. 137(6): 961-980.

115. H. Lin, Q. Tao, Q. Wei, C. Chen, Y. Chen, H. Li, A.D. Gitler & Z. Wu, Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis, Amyotroph Lateral Scler Frontotemporal Degener, 2019. 20(3-4):222-228.

2018

114. Bechek, S.C. and A.D. Gitler, In search of lost trafficking, Brain, 2018. 141(12):3282-3285.

113. Becker, L.A and A.D. Gitler, Disease protein muscles out of the nucleus, Nature, 2018. 563(7732):477-478.  

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. 24(8): 1136-1142. 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. Gitler, Phosphorylation 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 toxicity, FEMS Yeast Res, 2018. 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.

2017

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 hope, Dis 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 One, 2017, 12(2):e0171418. pdf

89. Kramer, N.J. and A.D. Gitler, Raise 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 ALS, Neurobiol Aging, 2017, doi: 10.1016/j.neurobiolaging.2016.11.010. pdf

2016

87. Shorter, J. and A.D. Gitler, Susan 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

84. Kramer, N.J. and A.D. Gitler, Regrowing axons with alternative splicing, eLife, 2016. 5:e18707. pdf

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

2015

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-Synuclein, Neuron, 2015. 85(1): 76-87. pdf

2014

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 Parkinson’s 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.

2013

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. Gitler, Yeast 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. Nature, 2013. 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

2012

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 Genet, 2012. 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. Gitler, ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J 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. Gitler, Evaluating 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 Dis, 2012. 45(1):356-361. pdf

2011

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, 2011. 31(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, 2011. 6(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. Neurology, 200. 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. Gitler, TDP-43 toxicity in yeast. Methods, 2011. 53(3): 238-245. * These authors contributed equally pdf

2010

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 LRRK2. PLoS 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 infectivity. J Cell Sci, 2010. 123(8):1191-1201. * These authors contributed equally, #Co-corresponding authors pdf

2009

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 toxicity. J 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):316-323. pdf

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

2008

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

2007

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

2006

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

2005

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

2004

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

2003

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

2002

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

1999-2000

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