作者
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E Hill, Jennifer M Kachergus, Ji Shi, Michael G Heckman, Matthew R Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian M Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez de Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth MC Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neil R Graff-Radford, Bradley F Boeve, David S Knopman, Ronald C Petersen, Keith A Josephs, E Aubrey Thompson, Towfique Raj, Michael Ward, Dennis W Dickson, Tania F Gendron, Pietro Fratta, Leonard Petrucelli
发表日期
2020/12/11
期刊
The Journal of clinical investigation
卷号
130
期号
11
出版商
American Society for Clinical Investigation
简介
No treatment for frontotemporal dementia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are being investigated to target the 2 main proteins associated with FTD pathological subtypes: TDP-43 (FTLD-TDP) and tau (FTLD-tau). Testing potential therapies in clinical trials is hampered by our inability to distinguish between patients with FTLD-TDP and FTLD-tau. Therefore, we evaluated truncated stathmin-2 (STMN2) as a proxy of TDP-43 pathology, given the reports that TDP-43 dysfunction causes truncated STMN2 accumulation. Truncated STMN2 accumulated in human induced pluripotent stem cell–derived neurons depleted of TDP-43, but not in those with pathogenic TARDBP mutations in the absence of TDP-43 aggregation or loss of nuclear protein. In RNA-Seq analyses of human brain samples from the NYGC ALS cohort, truncated STMN2 RNA was confined to …
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M Prudencio, J Humphrey, S Pickles, AL Brown, SE Hill… - The Journal of clinical investigation, 2020