Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, Magdalini, Lagier-Tourenne, Clotilde, Hutt, Kasey R, Huelga, Stephanie C, Moran, Jacqueline, Liang, Tiffany Y, Ling, Shuo-Chien, Sun, Eveline +9 more·2011·Nature Neuroscience
DOI 10.1038/nn.2779
Cited by (1,001)
Items 801–900 of 1,001
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- Targeting RACK1 to alleviate TDP-43 and FUS proteinopathy-mediated suppression of protein translation and neurodegenerationBeibei Zhao, Catherine M. Cowan, Juliane A. Coutts, Darren Christy, Ananya Saraph, Shawn C. C. Hsueh, Stephen S. Plotkin, Ian R. Mackenzie, Johanne M Kaplan, Neil R. Cashman · 2023 · Acta Neuropathologica Communications
- Distribution of ubiquilin 2 and TDP ‐43 aggregates throughout the CNS in UBQLN2 p. T487I ‐linked amyotrophic lateral sclerosis and frontotemporal dementiaLaura R. Nementzik, Kyrah M. Thumbadoo, Helen C. Murray, David Gordon, Shu Yang, Ian P. Blair, Clinton P. Turner, Richard L. M. Faull, Maurice A. Curtis, Catriona McLean et al. · 2023 · Brain Pathology
- Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degenerationGeorgia Dermentzaki, Mattia Furlan, Iris Tanaka, Tommaso Leonardi, Paola Rinchetti, Patricia M.S. Passos, Alliny Bastos, Yuna M. Ayala, Jacob H. Hanna, Serge Przedborski et al. · 2024 · Cell Reports
- The Glycoprotein Growth Factor Progranulin Promotes Carcinogenesis and has Potential Value in Anti-cancer TherapyYonghua Zhang · 2012 · Journal of Carcinogenesis & Mutagenesis
- What Is the Role of Stathmin-2 in Axonal Biology and Degeneration?Eduardo Elias Benarroch · 2021 · Neurology
- Autoimmunity to a ribonucleoprotein drives neuron loss in multiple sclerosis modelsCole D. Libner, Hannah E. Salapa, Catherine Hutchinson, Todd E Stang, Patricia A. Thibault, S. Austin Hammond, Michael C. Levin · 2022 · Neurobiology of Disease
- The genetic basis of amyotrophic lateral sclerosis: recent breakthroughsWim Robberecht, Caroline Eykens · 2015 · Advances in Genomics and Genetics
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- TDP-43 in ALS: Stay on Target…Almost ThereAna Jovičić, Aaron D. Gitler · 2014 · Neuron
- Decoding Abnormal Splicing Code in Human DiseasesKinji Ohno · 2015 · Journal of Investigative Genomics
- Analysis of the substrate recognition state of TDP-43 to single-stranded DNA using fluorescence correlation spectroscopyAkira Kitamura, Ai Shibasaki, Kayo Takeda, Ryoji Suno, Masataka Kinjo · 2018 · Biochemistry and Biophysics Reports
- Dynamic duo – FMRP and TDP-43: Regulating common targets, causing different diseasesDiana Ferro, Stephen Yao, Daniela C. Zarnescu · 2018 · Brain Research
- Decoding and recoding phase behavior of TDP43 reveals that phase separation is not required for splicing functionHermann Broder Schmidt, Ariana Barreau, Rajat Rohatgi · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
- Large-scale gene expression changes in APP/PSEN1 and GFAP mutation models exhibit high congruence with Alzheimer’s diseaseStephen C. Gammie, Albee Messing, Mason A. Hill, Cynthia A. Kelm‐Nelson, Tracy L. Hagemann · 2024 · PLoS ONE
- Aberrant protein aggregation in amyotrophic lateral sclerosisHuaixiu Wang, Rong Zeng · 2024 · Journal of Neurology
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- CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALSOlivia Keeley, Emma Mendoza, Druv Menon, Alyssa N. Coyne · 2024 · Acta Neuropathologica Communications
- Relation of Alzheimer's disease-related TDP-43 proteinopathy to metrics from diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI)Anna Lavrova, Nha Trang Thu Pham, Robert I. Reid, Bradley F. Boeve, David S. Knopman, Ronald Carl Petersen, Aivi T. Nguyen, Robert Ross Reichard, Dennis W. Dickson, Clifford R. Jack et al. · 2025 · Neurobiology of Aging
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- Motoneuron DiseaseMichael Sendtner · 2014 · Handbook of experimental pharmacology
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- Cryptic inclusions UNCover losses driving neurodegenerationAdekunle T. Bademosi, Adam K. Walker · 2022 · Trends in Genetics
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- Downstream Effects of Mutations in SOD1 and TARDBP Converge on Gene Expression Impairment in Patient-Derived Motor NeuronsBanaja P. Dash, Axel Freischmidt, Jochen Hans Weishaupt, Andreas Hermann · 2022 · International Journal of Molecular Sciences
- De novo design of RNA-binding proteins with a prion-like domain related to ALS/FTD proteinopathiesKana Mitsuhashi, Daisuke Ito, Kyoko Mashima, Munenori Oyama, Shinichi Takahashi, Norihiro Suzuki · 2017 · Scientific Reports
- Early alterations of RNA metabolism and splicing from adult corticospinal neurons in an ALS mouse modelChristine Marques, Mathieu Fischer, Céline Keime, Thibaut Burg, Aurore Brunet, Jelena Scekic‐Zahirovic, Caroline Rouaux · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
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- TAR DNA-binding protein of 43 kDa (TDP-43) and amyotrophic lateral sclerosis (ALS): a promising therapeutic targetYara Al Ojaimi, Audrey Dangoumau, Hugo Alarcan, Rudolf C. Hergesheimer, Patrick Vourc’h, Philippe Corcia, Débora Lanznaster, Hélène Blasco · 2022 · Expert Opinion on Therapeutic Targets
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- Abnormal Splicing Events due to Loss of Nuclear Function of TDP-43: Pathophysiology and PerspectivesYuka Mitsuhashi Koike · 2024 · JMA Journal
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- Functional Characterization of Neurofilament Light Splicing and Misbalance in ZebrafishDoris Lou Demy, Maria‐Letizia Campanari, Raphael Munoz‐Ruiz, Heather D. Durham, Benoît J. Gentil, Edor Kabashi · 2020 · Cells
- Thermodynamic modulation of folding and aggregation energy landscape by DNA binding of functional domains of TDP-43Divya Patni, Santosh Kumar Jha · 2023 · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
- From the disruption of RNA metabolism to the targeting of RNA ‐binding proteins: The case of polyglutamine spinocerebellar ataxiasTiago Moreira‐Gomes, Clévio Nóbrega · 2023 · Journal of Neurochemistry
- Evaluating emerging drugs in phase II & III for the treatment of amyotrophic lateral sclerosisXiaoyan Li, Richard Bedlack · 2024 · Expert Opinion on Emerging Drugs
- Initial gene vector dosing for studying symptomatology of amyotrophic lateral sclerosis in non‐human primatesKasey L. Jackson, Robert D. Dayton, Jeanne M. Fisher‐Perkins, Peter J. Didier, Kate C. Baker, Maria B. Weimer, Amparo Gutierrez, Cooper D. Cain, James Michael Mathis, Michael A. Gitcho et al. · 2015 · Journal of Medical Primatology
- Sortilin-related receptor CNS expressed 2 (SorCS2) is localized to Bunina bodies in amyotrophic lateral sclerosisFumiaki Mori, Yasuo Miki, Kunikazu Tanji, Akiyoshi Kakita, Hitoshi Takahashi, Jun Utsumi, Hidenao Sasaki, Koichi Wakabayashi · 2015 · Neuroscience Letters
- TDP-43 overexpression impairs presynaptic integrityCharbelE-H Moussa, Lanier Heyburn · 2016 · Neural Regeneration Research
- Molecular Mechanisms of Amyotrophic Lateral SclerosisMahlon A. Collins, Robert P. Bowser · 2017 · Elsevier eBooks
- Drosophila CG3303 is an essential endoribonuclease linked to TDP-43-mediated neurodegenerationPietro Laneve, Lucia Piacentini, Assunta Maria Casale, Davide Capauto, Ubaldo Gioia, Ugo Cappucci, Valerio Di Carlo, Irene Bozzoni, Patrizio Di Micco, Veronica Morea et al. · 2017 · Scientific Reports
- Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal DementiaZongbing Hao, Rui Wang, Haigang Ren, Guanghui Wang · 2020 · Neuroscience Bulletin
- Unannotated splicing regulatory elements in deep intron spaceJohn G. Conboy · 2021 · Wiley Interdisciplinary Reviews - RNA
- <Original Article>TDP-43 in the skin of amyotrophic lateral sclerosis patients.Keisuke Abe, Takuya Ohkubo, Takanori Yokota · 2017 · PubMed