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Mercedes Prudencio, … , Pietro Fratta, Leonard Petrucelli
Published August 13, 2020
Citation Information: J Clin Invest. 2020;130(11):e139741. https://doi.org/10.1172/JCI139741.
Citation Information: J Clin Invest. 2020;130(11):e139741. https://doi.org/10.1172/JCI139741.
Abstract
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 tissues and disease subtypes marked by TDP-43 inclusions. Last, we validated that truncated STMN2 RNA was elevated in the frontal cortex of a cohort of patients with FTLD-TDP but not in controls or patients with progressive supranuclear palsy, a type of FTLD-tau. Further, in patients with FTLD-TDP, we observed significant associations of truncated STMN2 RNA with phosphorylated TDP-43 levels and an earlier age of disease onset. Overall, our data uncovered truncated STMN2 as a marker for TDP-43 dysfunction in FTD.
Authors
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E. Hill, Jennifer M. Kachergus, J. 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, NYGC ALS Consortium, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth M.C. 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
Citation information
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Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN |
Neurology and Therapy | 2023 |
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Targeting Progranulin as an Immuno-Neurology Therapeutic Approach
Boylan MA, Pincetic A, Romano G, Tatton N, Kenkare-Mitra S, Rosenthal A |
International journal of molecular sciences | 2023 |
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Integration of FUNDC1-associated mitochondrial protein import and mitochondrial quality control contributes to TDP-43 degradation
Ma J, Liu L, Song L, Liu J, Yang L, Chen Q, Wu JY, Zhu L |
Cell Death and Disease | 2023 |
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G(2)C(4) targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.
Rothstein JD, Baskerville V, Rapuri S, Mehlhop E, Jafar-Nejad P, Rigo F, Bennett F, Mizielinska S, Isaacs A, Coyne AN |
Acta Neuropathologica | 2023 |
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Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation.
López-Erauskin J, Bravo-Hernandez M, Presa M, Baughn MW, Melamed Z, Beccari MS, Agra de Almeida Quadros AR, Arnold-Garcia O, Zuberi A, Ling K, Platoshyn O, Niño-Jara E, Ndayambaje IS, McAlonis-Downes M, Cabrera L, Artates JW, Ryan J, Hermann A, Ravits J, Bennett CF, Jafar-Nejad P, Rigo F, Marsala M, Lutz CM, Cleveland DW, Lagier-Tourenne C |
Nature Neuroscience | 2023 |
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Creation of de novo cryptic splicing for ALS/FTD precision medicine
Wilkins OG, Chien MZ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, Fisher EM, Cunningham TJ, Le Pichon CE, Ule J, Fratta P |
2023 | |
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Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer's disease neuropathologic changes and cognitive decline.
Chang K, Ling JP, Redding-Ochoa J, An Y, Li L, Dean SA, Blanchard TG, Pylyukh T, Barrett A, Irwin KE, Moghekar A, Resnick SM, Wong PC, Troncoso JC |
Acta Neuropathologica | 2023 |
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Highly variable molecular signatures of TDP-43 loss of function are associated with nuclear pore complex injury in a population study of sporadic ALS patient iPSNs.
Rothstein JD, Warlick C, Coyne AN |
bioRxiv : the preprint server for biology | 2023 |
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Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis.
Tsioras K, Smith KC, Edassery SL, Garjani M, Li Y, Williams C, McKenna ED, Guo W, Wilen AP, Hark TJ, Marklund SL, Ostrow LW, Gilthorpe JD, Ichida JK, Kalb RG, Savas JN, Kiskinis E |
Cell Reports | 2023 |
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Antisense Oligonucleotides for the Study and Treatment of ALS
B Boros, K Schoch, C Kreple, T Miller |
Neurotherapeutics | 2022 |
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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
X Ma, M Prudencio, Y Koike, S Vatsavayai, G Kim, F Harbinski, A Briner, C Rodriguez, C Guo, T Akiyama, H Schmidt, B Cummings, D Wyatt, K Kurylo, G Miller, S Mekhoubad, N Sallee, G Mekonnen, L Ganser, J Rubien, K Jansen-West, C Cook, S Pickles, B Oskarsson, N Graff-Radford, B Boeve, D Knopman, R Petersen, D Dickson, J Shorter, S Myong, E Green, W Seeley, L Petrucelli, A Gitler |
Nature | 2022 |
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Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers
T Akiyama, Y Koike, L Petrucelli, A Gitler |
Clinical and Translational Medicine | 2022 |
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Loss of mouse Stmn2 function causes motor neuropathy
I Juan, L Nash, K Smith, M Leyton-Jaimes, M Qian, J Klim, F Limone, A Dorr, A Couto, G Pintacuda, B Joseph, D Whisenant, C Noble, V Melnik, D Potter, A Holmes, A Burberry, M Verhage, K Eggan |
Neuron | 2022 |
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Short structural variants as informative genetic markers for ALS disease risk and progression
F Theunissen, L Flynn, R Anderton, P Akkari |
BMC Medicine | 2022 |
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Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.
Reyes-Leiva D, Dols-Icardo O, Sirisi S, Cortés-Vicente E, Turon-Sans J, de Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lleó A, Rojas-García R, Illán-Gala I |
Frontiers in neurology | 2022 |
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A chemogenomic approach is required for effective treatment of amyotrophic lateral sclerosis.
Pampalakis G, Angelis G, Zingkou E, Vekrellis K, Sotiropoulou G |
Clinical and Translational Medicine | 2022 |
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Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets.
Gagliardi D, Pagliari E, Meneri M, Melzi V, Rizzo F, Comi GP, Corti S, Taiana M, Nizzardo M |
Biomedicines | 2022 |
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Pathogenic Mutation of TDP-43 Impairs RNA Processing in a Cell Type-Specific Manner: Implications for the Pathogenesis of ALS/FTLD
Imaizumi K, Ideno H, Sato T, Morimoto S, Okano H |
eNeuro | 2022 |
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Cell environment shapes TDP-43 function with implications in neuronal and muscle disease.
Šušnjar U, Škrabar N, Brown AL, Abbassi Y, Phatnani H, Cortese A, Cereda C, Bugiardini E, Cardani R, Meola G, Ripolone M, Moggio M, Romano M, Secrier M, Fratta P, Buratti E |
2022 | |
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TDP-43-associated atrophy in brains with and without frontotemporal lobar degeneration
Buciuc M, Martin PR, Tosakulwong N, Murray ME, Petrucelli L, Senjem ML, Spychalla AJ, Knopman DS, Boeve BF, Petersen RC, Parisi JE, Reichard RR, Dickson DW, Jack CR Jr, Whitwell JL, Josephs KA |
2022 | |
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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FC, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H, Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EM, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P |
Nature | 2022 |
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Astrocyte‐targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast‐fatigable motor units in a mouse model of amyotrophic lateral sclerosis
Rochat C, Bernard\u2010Marissal N, Källstig E, Pradervand S, Perrin FE, Aebischer P, Raoul C, Schneider BL |
Glia | 2022 |
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Evidence of cerebellar TDP-43 loss of function in FTLD-TDP
Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M |
Acta Neuropathologica Communications | 2022 |
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Loss of Stathmin-2, a hallmark of TDP-43-associated ALS, causes motor neuropathy
Krus KL, Strickland A, Yamada Y, Devault L, Schmidt RE, Bloom AJ, Milbrandt J, DiAntonio A |
Cell Reports | 2022 |
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Integrated Analysis of Cortex Single-Cell Transcriptome and Serum Proteome Reveals the Novel Biomarkers in Alzheimer’s Disease
Yu QS, Feng WQ, Shi LL, Niu RZ, Liu J |
Brain Sciences | 2022 |
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Transcriptional targets of amyotrophic lateral sclerosis/frontotemporal dementia protein TDP-43 – meta-analysis and interactive graphical database
Cao MC, Scotter EL |
Disease models & mechanisms | 2022 |
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NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.
Cappelli S, Spalloni A, Feiguin F, Visani G, Šušnjar U, Brown AL, De Bardi M, Borsellino G, Secrier M, Phatnani H, Romano M, Fratta P, Longone P, Buratti E |
2022 | |
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TDP-43 and NEAT long non-coding RNA: Roles in neurodegenerative disease
Sekar D, Tusubira D, Ross K |
Frontiers in cellular neuroscience | 2022 |
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Limbic-predominant Age-related TDP-43 Encephalopathy: LATE-Breaking Updates in Clinicopathologic Features and Biomarkers
Duong MT, Wolk DA |
Current Neurology and Neuroscience Reports | 2022 |
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STMN2 overexpression promotes cell proliferation and EMT in pancreatic cancer mediated by WNT/β-catenin signaling.
Shao M, Wang L, Zhang Q, Wang T, Wang S |
Cancer Gene Therapy | 2022 |
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Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D, Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T |
Nature Neuroscience | 2022 |
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Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation
Mead RJ, Shan N, Reiser HJ, Marshall F, Shaw PJ |
Nature reviews. Drug discovery | 2022 |
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Huntington’s disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization
Isabella I. Sanchez, Thai B. Nguyen, Whitney E. England, Ryan G. Lim, Anthony Q Vu, Ricardo Miramontes, Lauren M. Byrne, Sebastian Markmiller, Alice L. Lau, Iliana Orellana, Maurice Curtis, Richard Lewis Maxwell Faull, Gene Yeo, Christie D Fowler, Jack Reidling, Edward J. Wild, Robert Spitale, Leslie Thompson |
Journal of Clinical Investigation | 2021 |
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Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation
P Tziortzouda, LV Bosch, F Hirth |
Nature Reviews Neuroscience | 2021 |
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Novel Insight Into the Role of Immune Dysregulation in Amyotrophic Lateral Sclerosis Based on Bioinformatic Analysis
Y Xie, X Luo, H He, M Tang |
Frontiers in neuroscience | 2021 |
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Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype
F Theunissen, RS Anderton, FL Mastaglia, LL Flynn, SJ Winter, I James, R Bedlack, S Hodgetts, S Fletcher, SD Wilton, NG Laing, M MacShane, M Needham, A Saunders, A Mackay-Sim, Z Melamed, J Ravits, DW Cleveland, PA Akkari |
Frontiers in aging neuroscience | 2021 |
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Epigenetic Small Molecules Rescue Nucleocytoplasmic Transport and DNA Damage Phenotypes in C9ORF72 ALS/FTD
M Ramic, NS Andrade, MJ Rybin, R Esanov, C Wahlestedt, M Benatar, Z Zeier |
Brain Sciences | 2021 |
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New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis
F Theunissen, PK West, S Brennan, B Petrović, K Hooshmand, PA Akkari, M Keon, B Guennewig |
Translational Neurodegeneration | 2021 |
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An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients
J Li, RG Lim, JA Kaye, V Dardov, AN Coyne, J Wu, P Milani, A Cheng, TG Thompson, L Ornelas, A Frank, M Adam, MG Banuelos, M Casale, V Cox, R Escalante-Chong, JG Daigle, E Gomez, L Hayes, R Holewenski, S Lei, A Lenail, L Lima, B Mandefro, A Matlock, L Panther, NL Patel-Murray, J Pham, D Ramamoorthy, K Sachs, B Shelley, J Stocksdale, H Trost, M Wilhelm, V Venkatraman, BT Wassie, S Wyman, S Yang, JE Eyk, TE Lloyd, S Finkbeiner, E Fraenkel, JD Rothstein, D Sareen, CN Svendsen, LM Thompson, H Phatnani, J Kwan, D Sareen, JR Broach, Z Simmons, X Arcila-Londono, EB Lee, VM Deerlin, NA Shneider, E Fraenkel, LW Ostrow, F Baas, N Zaitlen, JD Berry, A Malaspina, P Fratta, GA Cox, LM Thompson, S Finkbeiner, E Dardiotis, TM Miller, S Chandran, S Pal, E Hornstein, DJ MacGowan, T Heiman-Patterson, MG Hammell, NA Patsopoulos, O Butovsky, J Dubnau, A Nath, R Bowser, M Harms, M Poss, J Phillips-Cremins, J Crary, N Atassi, DJ Lange, DJ Adams, L Stefanis, M Gotkine, RH Baloh, S Babu, T Raj, S Paganoni, O Shalem, C Smith, B Zhang, B Harris, I Broce, V Drory, J Ravits, C McMillan, V Menon, L Wu, S Altschuler |
iScience | 2021 |
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Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies
AS Smith, C Chun, J Hesson, J Mathieu, PN Valdmanis, DL Mack, BO Choi, DH Kim, M Bothwell |
Frontiers in Cell and Developmental Biology | 2021 |
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HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing
A Bampton, A Gatt, J Humphrey, S Cappelli, D Bhattacharya, S Foti, AL Brown, Y Asi, YH Low, M Foiani, T Raj, E Buratti, P Fratta, T Lashley |
Acta Neuropathologica | 2021 |
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Transcriptional Analysis of Nuclear-Encoded Mitochondrial Genes in Eight Neurodegenerative Disorders: The Analysis of Seven Diseases in Reference to Friedreich’s Ataxia
M Elsadany, R Elghaish, A Khalil, A Ahmed, R Mansour, E Badr, M Elserafy |
Frontiers in Genetics | 2021 |
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Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS.
Coyne AN, Baskerville V, Zaepfel BL, Dickson DW, Rigo F, Bennett F, Lusk CP, Rothstein JD |
Science Translational Medicine | 2021 |
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Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations
Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Asmann YW, Dickson DW, Rademakers R |
Brain : a journal of neurology | 2021 |
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Stathmin-2: Adding another piece to the puzzle of TDP-43 proteinopathies and neurodegeneration
Jonathan D. Glass |
Journal of Clinical Investigation | 2020 |
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Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis
A Yousefian-Jazi, YH Seol, J Kim, HL Ryu, J Lee, H Ryu |
Cells | 2020 |
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