Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis
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Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics for treating C9ORF72 -associated amyotrophic lateral sclerosis.
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In C9orf72 expansion carriers, poly(GP), one of the DPR proteins produced by the C9orf72 expansions, is elevated as early as the presymptomatic phase.
“In C9orf72 expansion carriers, poly(GP), one of the DPR proteins produced by the C9orf72 expansions, is elevated as early as the presymptomatic phase.”
From New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia (2022) · cites this paper as [110]
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- Authors
- Gendron, T. F., Chew, J., Stankowski, J. N., Hayes, L. R., Zhang, Y.-J., Prudencio, M., Carlomagno, Y., Daughrity, L. M., Jansen-West, K., Perkerson, E. A., O’Raw, A., Cook, C., Pregent, L., Belzil, V., van Blitterswijk, M., Tabassian, L. J., Lee, C. W., Yue, M., Tong, J., Song, Y., Castanedes-Casey, M., Rousseau, L., Phillips, V., Dickson, D. W., Rademakers, R., Fryer, J. D., Rush, B. K., Pedraza, O., Caputo, A. M., Desaro, P., Palmucci, C., Robertson, A., Heckman, M. G., Diehl, N. N., Wiggs, E., Tierney, M., Braun, L., Farren, J., Lacomis, D., Ladha, S., Fournier, C. N., McCluskey, L. F., Elman, L. B., Toledo, J. B., McBride, J. D., Tiloca, C., Morelli, C., Poletti, B., Solca, F., Prelle, A., Wuu, J., Jockel-Balsarotti, J., Rigo, F., Ambrose, C., Datta, A., Yang, W., Raitcheva, D., Antognetti, G., McCampbell, A., Van Swieten, J. C., Miller, B. L., Boxer, A. L., Brown, R. H., Bowser, R., Miller, T. M., Trojanowski, J. Q., Grossman, M., Berry, J. D., Hu, W. T., Ratti, A., Traynor, B. J., Disney, M. D., Benatar, M., Silani, V., Glass, J. D., Floeter, M. K., Rothstein, J. D., Boylan, K. B., & Petrucelli, L.
- Affiliations
- Mayo Clinic (US)
- Johns Hopkins University (US)
- Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
- National Institutes of Health (US)
- University of Pittsburgh (US)
- Barrow Neurological Institute (US)
- Emory University (US)
- University of Pennsylvania (US)
- Houston Methodist (US)
- IRCCS Istituto Auxologico Italiano (IT)
- Azienda Ospedaliera Ospedale Maggiore (IT)
- University of Miami (US)
- Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
- Ionis Pharmaceuticals (United States) (US)
- Aleta Biotherapeutics, Natick, MA 01760, USA.
- Biogen (United States) (US)
- Department of Neurology, Erasmus MC, University Medical Centre, Rotterdam, Netherlands.
- University of California, San Francisco (US)
- University of Massachusetts Chan Medical School (US)
- Washington University in St. Louis (US)
- Massachusetts General Hospital (US)
- University of Milan (IT)
- Scripps Research Institute (US)
- Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
- Corresponding author
- Gendron, Tania F.
- Chew, Jeannie
- Stankowski, Jeannette N.
- Hayes, Lindsey R.
- Petrucelli, Leonard
- ORCID
- Gendron, Tania F.
- Chew, Jeannie
- Stankowski, Jeannette N.
- Hayes, Lindsey R.
- Zhang, Yong-Jie
- Prudencio, Mercedes
- Carlomagno, Yari
- Daughrity, Lillian M.
- O’Raw, Aliesha
- Cook, Casey
- Pregent, Luc
- Belzil, Veronique
- van Blitterswijk, Marka
- Lee, Chris W.
- Song, Yuping
- Castanedes-Casey, Monica
- Rousseau, Linda
- Phillips, Virginia
- Dickson, Dennis W.
- Rademakers, Rosa
- Fryer, John D.
- Rush, Beth K.
- Pedraza, Otto
- Desaro, Pamela
- Palmucci, Carla
- Robertson, Amelia
- Heckman, Michael G.
- Diehl, Nancy N.
- Tierney, Michael
- Lacomis, David
- Ladha, Shafeeq
- Fournier, Christina N.
- Elman, Lauren B.
- Toledo, Jon B.
- McBride, Jennifer D.
- Tiloca, Cinzia
- Morelli, Claudia
- Poletti, Barbara
- Solca, Federica
- Prelle, Alessandro
- Wuu, Joanne
- Jockel-Balsarotti, Jennifer
- Rigo, Frank
- Yang, Weixing
- Raitcheva, Denitza
- McCampbell, Alexander
- Miller, Bruce L.
- Boxer, Adam L.
- Brown, Robert H.
- Bowser, Robert
- Miller, Timothy M.
- Trojanowski, John Q.
- Grossman, Murray
- Berry, James D.
- Hu, William T.
- Ratti, Antonia
- Traynor, Bryan J.
- Disney, Matthew D.
- Benatar, Michael
- Silani, Vincenzo
- Glass, Jonathan D.
- Rothstein, Jeffrey D.
- Petrucelli, Leonard
- Venue
- Science Translational Medicine
- Published
- 2017-03-29
- Volume
- 9
- Issue
- 383
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5576451
- OpenAlex
- W2599471352
- Cited by
- 265
- References
- 29
- Citations by year
- 2026: 6 · 2025: 16 · 2024: 15 · 2023: 27 · 2022: 27 · 2021: 46 · 2020: 45 · 2019: 38 · 2018: 27 · 2017: 18
- FWCI
- 24.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- U.S. Department of Defense (award295525, ALSRP AL130125)
- National Institute on Aging (award295526, P01AG017586,K23AG042856,AG10124)
- National Institute of Neurological Disorders and Stroke (award295527, R21NS089979,R25NS065729,R01NS078398 ,R21NS084528,P01NS084974,R01NS088689,R01NS085207,U54NS091046,Z01NS003146)
- Amyotrophic Lateral Sclerosis Association (award295528)
- Muscular Dystrophy Association (award295529, 416137,4365,172123)
- ALS Therapy Alliance (award295530)
- Brain Science Institute, Johns Hopkins University (award295531)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- C9orf72, amyotrophic lateral sclerosis, pharmacodynamic biomarkers, therapeutic biomarkers, C9orf72 repeat expansion, RNA-binding proteins
- MeSH terms
- C9orf72 Protein, Adult, Aged, Amyotrophic Lateral Sclerosis, Animals, Brain, Cell Line, Humans, Leukocytes, Mononuclear, Longitudinal Studies, Middle Aged, Neurons, Prognosis, RNA, Biomarkers, Oligonucleotides, Antisense, Dinucleotide Repeats, Mice, Induced Pluripotent Stem Cells
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