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Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

Journal Article published Oct 2014 in Neurobiology of Aging volume 35 issue 10 on pages 2421.e13 to 2421.e17

Research funded by National Institutes of Health (R01 NS080882, R01 NS065782, R01 AG026251, P01 AG017586, P50 NS072187, P50 AG016574, P30 AG013854, P30 AG012300, P30 AG019610, U01 AG006786) | ALS Therapy Alliance | Consortium for Frontotemporal Dementia Research | Canadian Institutes of Health Research (#179009) | Amyotrophic Lateral Sclerosis Association

Authors: Marka van Blitterswijk, Bianca Mullen, Michael G. Heckman, Matthew C. Baker, Mariely DeJesus-Hernandez, Patricia H. Brown, Melissa E. Murray, Ging-Yuek R. Hsiung, Heather Stewart, Anna M. Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H. Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J. Hatanpaa, Charles L. White, Manuela Neumann, Michael J. Strong, Thomas G. Beach, Zbigniew K. Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A. Josephs, Joseph E. Parisi, David S. Knopman, Ronald C. Petersen, Ian R. Mackenzie, William W. Seeley, Lea T. Grinberg, Bruce L. Miller, Kevin B. Boylan, Neill R. Graff-Radford, Bradley F. Boeve, Dennis W. Dickson, Rosa Rademakers

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

Journal Article published 2 Jun 2015 in Acta Neuropathologica volume 130 issue 4 on pages 525 to 535

Research funded by National Institutes of Health (R01 NS057553, R21 NS077294, R01 NS079725) | ALS Therapy Alliance (2013-S-018) | Target ALS

Authors: Dejun Yang, Abbas Abdallah, Zhaodong Li, Yubing Lu, Sandra Almeida, Fen-Biao Gao

Defective axonal transport: A common pathological mechanism in inherited and acquired peripheral neuropathies

Journal Article published Sep 2017 in Neurobiology of Disease volume 105 on pages 300 to 320

Research funded by Fonds Wetenschappelijk Onderzoek (G.0440.12N, G.0920.15) | Association Belge contre les Maladies Neuro-Musculaires | ALS Therapy Alliance | Muscular Dystrophy Association (MDA295317) | Fondation Thierry Latran | Seventh Framework Programme (259867) | National Institutes of Health (NS079183)

Authors: Robert Prior, Lawrence Van Helleputte, Veronick Benoy, Ludo Van Den Bosch

Synthesis and SAR assessment of novel Tubathian analogs in the pursuit of potent and selective HDAC6 inhibitors

Journal Article published 2016 in Organic & Biomolecular Chemistry volume 14 issue 8 on pages 2537 to 2549

Research funded by ALS Therapy Alliance

Authors: Rob De Vreese, Yves Depetter, Tom Verhaeghe, Tom Desmet, Veronick Benoy, Wanda Haeck, Ludo Van Den Bosch, Matthias D′hooghe

FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP

Journal Article published 29 Jun 2015 in Proceedings of the National Academy of Sciences volume 112 issue 28 on pages 8608 to 8613

Research funded by National Institute of General Medical Sciences (GM043375) | ALS Therapy Alliance (2013-S-006)

Authors: Yong Yu, Robin Reed

Drug repurposing to target proteostasis and prevent neurodegeneration: accelerating translational efforts

Journal Article published 24 May 2017 in Brain volume 140 issue 6 on pages 1544 to 1547

Research funded by Air Force Office of Scientific Research (FA9550-16-1-0384) | Michael J Fox Foundation for Parkinson's Research – Target Validation (9277) | Fondo Nacional de Desarrollo Científico y Tecnológico (11140738, 1140549) | Muscular Dystrophy Association (382453) | Millennium Institute (P09-015-F) | European Commission R&D, MSCA-RISE (#734749) | FONDAP program (15150012) | CONICYT-Brazil (441921/2016-7) | ALS Therapy Alliance (2014-F-059) | US Office of Naval Research-Global (ONR-G) (N62909-16-1-2003) | ALSRP Therapeutic Idea Award (AL150111) | Fondo de Fomento al Desarrollo Científico y Tecnológico (ID16I10223, D11E1007)

Authors: Gabriela Mercado, Claudio Hetz

PREFACE: Divergent roles of ER stress in neurodegeneration and brain disorders

Journal Article published Oct 2016 in Brain Research volume 1648 on pages 527 to 529

Research funded by Ecos-Conicyt (C13S02) | Fondo Nacional de Desarrollo Científico y Tecnológico (1140549) | Muscular Dystrophy Association (382453) | Millennium Institute (P09-015-F) | COPEC-UC Foundation (2013.R.40) | FONDAP (15150012) | Michael J Fox Foundation (9277) | Synapsis Foundation | Frick Foundation (20014-15) | ALS Therapy Alliance (2014-F-059) | Office of Naval Research (N62909-16-1-2003) | ALSRP Therapeutic Idea Award (AL150111) | National Science Foundation (128460, 150756) | CONICYT-USA (2013-0003)

Authors: Claudio Hetz, Smita Saxena

Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients

Journal Article published Jun 2017 in Cell Reports volume 19 issue 11 on pages 2244 to 2256

Research funded by National Institutes of Health (GM043375, NS057553, NS079725) | ALS Therapy Alliance (2013-S-006) | Amyotrophic Lateral Sclerosis Association (2179)

Authors: Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C. Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P. Gygi, Fen-Biao Gao, Robin Reed

Phosphorylation in the amino terminus of tau prevents inhibition of anterograde axonal transport

Journal Article published Apr 2012 in Neurobiology of Aging volume 33 issue 4 on pages 826.e15 to 826.e30

Research funded by NIH (T32 AG020506-07, AG09466, NS23868, NS23320, NS41170, R01 NS066942A) | ALS Therapy Alliance

Authors: Nicholas M. Kanaan, Gerardo Morfini, Gustavo Pigino, Nichole E. LaPointe, Athena Andreadis, Yuyu Song, Ellen Leitman, Lester I. Binder, Scott T. Brady

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

Journal Article published May 2018 in Current Biology volume 28 issue 10 on pages 1522 to 1535.e5

Research funded by NIH Office of Research Infrastructure Programs (P40 OD010440) | EMBO (ALTF 144-2011) | ALS Therapy Alliance (2013-S-0113) | Mr. and Mrs. D.C. Barnard | MIT McGovern Institute | Halis Family Foundation | MIT Aging Brain Initiative

Authors: Anna Corrionero, H. Robert Horvitz

Neuroprotective agents target molecular mechanisms of disease in ALS

Journal Article published Jan 2015 in Drug Discovery Today volume 20 issue 1 on pages 65 to 75

Research funded by Muscular Dystrophy Association (254530) | ALS Therapy Alliance | Bill and Melinda Gates Foundation | National Natural Science Foundation of China (81271413)

Authors: Yongjin Zhu, Anastasios Fotinos, Lilly L.J. Mao, Nazem Atassi, Edward W. Zhou, Sarfraz Ahmad, Yingjun Guan, James D. Berry, Merit E. Cudkowicz, Xin Wang

Deuteration and fluorination of 1,3-bis(2-phenylethyl)pyrimidine-2,4,6(1H,3H,5H)-trione to improve its pharmacokinetic properties

Journal Article published Nov 2014 in Bioorganic & Medicinal Chemistry Letters volume 24 issue 21 on pages 5098 to 5101

Research funded by National Institutes of Health (1R43NS057849) | Amyotrophic Lateral Sclerosis Association | U.S. Department of Defense (AL093052) | ALS Therapy Alliance

Authors: Guoyao Xia, Radhia Benmohamed, Richard I. Morimoto, Donald R. Kirsch, Richard B. Silverman

Vulnerability of microRNA biogenesis in FTD–ALS

Journal Article published Sep 2016 in Brain Research volume 1647 on pages 105 to 111

Research funded by Fraida Foundation, Wolfson Family Charitable Trust, Adelis Foundation | Julius and Ray Charlestein Foundation | Bruno and Ilse Frick Foundation for Research | Israel Science Foundation | Philip and Charlene Vener New Scientist Fund | Kekst Family Institute for Medical Genetics | David and Fela Shapell Family Center for Genetic Disorders Research | Research Foundation of the Chief Scientist Office of the Ministry of Health | srael Ministry of Trade and Industry | Y. Leon Benoziyo Institute for Molecular Medicine | Crown Human Genome Center, Nathan, Shirley | ALS Therapy Alliance | Nella and Leon Benoziyo Center for Neurological Diseases, Weizmann Institute of Science, Rehovot, Israel

Authors: Chen Eitan, Eran Hornstein

Endoplasmic reticulum proteostasis impairment in aging

Journal Article published 23 Apr 2017 in Aging Cell volume 16 issue 4 on pages 615 to 623

Research funded by Air Force Office of Scientific Research (FA9550-16-1-0384) | Fondo Nacional de Desarrollo Científico y Tecnológico (11160760, 3150637, 1140549) | Michael J. Fox Foundation for Parkinson's Research (9277) | Office of Naval Research Global (N62909-16-1-2003) | Muscular Dystrophy Association (382453) | Millennium Institute (P09-015-F, ID16I10223, D11E1007) | Comisión Nacional de Investigación Científica y Tecnológica (441921/2016-7) | FONDAP program (15150012) | ALS Therapy Alliance (2014-F-059) | Fondo de Fomento al Desarrollo Científico y Tecnológico

Authors: Gabriela Martínez, Claudia Duran-Aniotz, Felipe Cabral-Miranda, Juan P. Vivar, Claudio Hetz

Mitochondrial DNA variations in Madras motor neuron disease

Journal Article published Nov 2013 in Mitochondrion volume 13 issue 6 on pages 721 to 728

Research funded by Department of Biotechnology (DBT), Government of India | Council of Scientific and Industrial Research (CSIR), Government of India | ALS Therapy Alliance | Project ALS | Angel Fund | Pierre L. de Bourgknecht ALS Research Foundation | Al-Athel ALS Research Foundation | NIH/NINDS (1R01NS050557)

Authors: Periyasamy Govindaraj, Atchayaram Nalini, Nithin Krishna, Anugula Sharath, Nahid Akhtar Khan, Rakesh Tamang, M. Gourie-Devi, Robert H. Brown, Kumarasamy Thangaraj

Chronic infusion of SOD1G93A astrocyte-secreted factors induces spinal motoneuron degeneration and neuromuscular dysfunction in healthy rats

Journal Article published 27 Mar 2017 in Journal of Cellular Physiology volume 232 issue 10 on pages 2610 to 2615

Research funded by Consejo Nacional de Ciencia y Tecnología (240817) | Dirección General de Asuntos del Personal Académico, Universidad Nacional Autónoma de México (IN204516) | ALS Therapy Alliance (2014-F-034) | Desert Research Institute (2013-0030)

Authors: Uri N. Ramírez-Jarquín, Fabiola Rojas, Brigitte van Zundert, Ricardo Tapia

Targeting PERK signaling with the small molecule GSK2606414 prevents neurodegeneration in a model of Parkinson's disease

Journal Article published Apr 2018 in Neurobiology of Disease volume 112 on pages 136 to 148

Research funded by ALSRP Therapeutic Idea (AL150111) | Air Force Office of Scientific Research (FA9550-16-1-0384) | Westmead Millennium Institute for Medical Research (P09-015-F) | Fondo Nacional de Desarrollo Científico y Tecnológico (11140738, 1140549) | Michael J. Fox Foundation for Parkinson's Research (9277, 12473) | Muscular Dystrophy Association (382453) | FONDAP (15150012) | US Office of Naval Research-Global (N62909-16-1-2003) | CONICYT-Brazil (441921/2016-7) | ALS Therapy Alliance (2014-F-059) | Fondo de Fomento al Desarrollo Científico y Tecnológico (ID16I10223, D11E1007)

Authors: Gabriela Mercado, Valentina Castillo, Paulina Soto, Nélida López, Jeffrey M. Axten, Sergio P. Sardi, Jeroen J.M. Hoozemans, Claudio Hetz

Genetics of FTLD: overview and what else we can expect from genetic studies

Journal Article published Aug 2016 in Journal of Neurochemistry volume 138 on pages 32 to 53

Research funded by National Institutes of Health (P50 AG016574, P50 NS072187, R01 NS080882, R01 NS076471) | ALS Therapy Alliance | Consortium for Frontotemporal Dementia

Authors: Cyril Pottier, Thomas A. Ravenscroft, Monica Sanchez-Contreras, Rosa Rademakers

Gene Therapy Strategies to Restore ER Proteostasis in Disease

Journal Article published Jun 2018 in Molecular Therapy volume 26 issue 6 on pages 1404 to 1413

Research funded by Ecos-Conicyt (C13S02) | Fondecyt (3170622) | Michael J. Fox Foundation for Parkinson's Research (9277, 12473) | FONDECYT (11180186) | Leading House for the Latin American Region | Muscular Dystrophy Association (382453) | Millennium Institute (P09-015-F) | FONDAP (15150012) | ALSRP (AL150111) | Office of Naval Research-Global (ONR-G (N62909-16-1-2003) | ALS Therapy Alliance (2014-F-059) | Amyotrophic Lateral Sclerosis Association (17-PDF-32) | CONICYT-USA (2013-0003)

Authors: Vicente Valenzuela, Kasey L. Jackson, Sergio P. Sardi, Claudio Hetz

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

Journal Article published 29 Mar 2017 in Science Translational Medicine volume 9 issue 383 on page eaai7866

Research funded by U.S. Department of Defense (295525, ALSRP AL130125) | National Institute on Aging (295526, P01AG017586, K23AG042856, AG10124) | National Institute of Neurological Disorders and Stroke (295527, R21NS089979, R25NS065729, R01NS078398, R21NS084528, P01NS084974, R01NS088689, R01NS085207, U54NS091046, Z01NS003146) | Amyotrophic Lateral Sclerosis Association (295528) | Muscular Dystrophy Association (295529, 416137, 4365, 172123) | ALS Therapy Alliance (295530) | Brain Science Institute, Johns Hopkins University (295531)

Authors: Tania F. Gendron, Jeannie Chew, Jeannette N. Stankowski, Lindsey R. Hayes, Yong-Jie Zhang, Mercedes Prudencio, Yari Carlomagno, Lillian M. Daughrity, Karen Jansen-West, Emilie A. Perkerson, Aliesha O’Raw, Casey Cook, Luc Pregent, Veronique Belzil, Marka van Blitterswijk, Lilia J. Tabassian, Chris W. Lee, Mei Yue, Jimei Tong, Yuping Song, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W. Dickson, Rosa Rademakers, John D. Fryer, Beth K. Rush, Otto Pedraza, Ana M. Caputo, Pamela Desaro, Carla Palmucci, Amelia Robertson, Michael G. Heckman, Nancy N. Diehl, Edythe Wiggs, Michael Tierney, Laura Braun, Jennifer Farren, David Lacomis, Shafeeq Ladha, Christina N. Fournier, Leo F. McCluskey, Lauren B. Elman, Jon B. Toledo, Jennifer D. McBride, Cinzia Tiloca, Claudia Morelli, Barbara Poletti, Federica Solca, Alessandro Prelle, Joanne Wuu, Jennifer Jockel-Balsarotti, Frank Rigo, Christine Ambrose, Abhishek Datta, Weixing Yang, Denitza Raitcheva, Giovanna Antognetti, Alexander McCampbell, John C. Van Swieten, Bruce L. Miller, Adam L. Boxer, Robert H. Brown, Robert Bowser, Timothy M. Miller, John Q. Trojanowski, Murray Grossman, James D. Berry, William T. Hu, Antonia Ratti, Bryan J. Traynor, Matthew D. Disney, Michael Benatar, Vincenzo Silani, Jonathan D. Glass, Mary Kay Floeter, Jeffrey D. Rothstein, Kevin B. Boylan, Leonard Petrucelli