MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain
Goodwin, Marianne, Mohan, Apoorva, Batra, Ranjan, Lee, Kuang-Yung, Charizanis, Konstantinos, Gómez, Francisco José Fernández, Eddarkaoui, Sabiha, Sergeant, Nicolas +11 more·2015·Cell Reports
Cited by (151)
Items 101–151 of 151
- Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation‐induced trans‐cortical reflexesRichard K. Shields, Jinhyun Lee, Aaron Buelow, Michael Arlyn Petrie, Shauna Dudley‐Javoroski, Stephen Cross, Laurie Gutmann, Peg Nopoulos · 2019 · Muscle & Nerve
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- Altered Behavioral Responses Show GABA Sensitivity in Muscleblind-Like 2-Deficient Mice: Implications for CNS Symptoms in Myotonic DystrophyKamyra S. Edokpolor, Anwesha Banerjee, Zachary T. McEachin, Jingsheng Gu, Adam Kosti, Juan D. Arboleda, Paul S. García, Eric T. Wang, Gary Jonathan Bassell · 2022 · eNeuro
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- Species‐specific consequences of an E40K missense mutation in superoxide dismutase 1 (SOD1)Alexandra C. E. Draper, Zoe Wilson, Charlotte Maile, Danilo Faccenda, Michelangelo Campanella, Richard J. Piercy · 2019 · The FASEB Journal
- Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8)Angela K. Nietz, Laurentiu S. Popa, Russell E. Carter, Morgan L Gerhart, Keerthi Manikonda, Laura P.W. Ranum, Timothy J. Ebner · 2025 · Neurobiology of Disease
- Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brainPei-Ying Wang, Ting‐Yu Kuo, Lee‐Hsin Wang, Wen-Hsing Liang, Guey‐Shin Wang · 2023 · Acta Neuropathologica Communications
- Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)S. Nieuwenhuis, Joanna Widomska, P. Blom, P. T' Hoen, B. V. van Engelen, J. Glennon · 2022 · International Journal of Molecular Sciences
- RNA gain-of-function mechanisms in short tandem repeat diseasesMackenzie L. Davenport, Maurice S. Swanson · 2024 · RNA
- Regulation of Toxic RNA Foci and Mutant DMPK Transcripts: Role of MBNL Proteins and RNA Decay PathwaysXiaomeng Xing, Róbert Márkus, Tushar Ghosh, Sarah Buxton, Daniel J. Nieves, Marzena Wojciechowska, J. David Brook · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulationKatarzyna Taylor, Agnieszka Piasecka, Arkadiusz Kajdasz, Aleksandra Brzęk, Micaela Polay Espinoza, Cyril F. Bourgeois, Artur Jankowski, Malgorzata Borowiak, Katarzyna Dorota Raczyńska, Łukasz J. Sznajder et al. · 2023 · Cellular and Molecular Life Sciences
- Alternative Splicing and CaV ‐Associated ChannelopathiesWilly Munyao, Md. Mostafizur Rahman, Samuel Sabzanov, Elizabeth H. Chu, Ruizhi Wang, Zhifei Wang, Yong Yu, Matteo Ruggiu · 2025 · Wiley Interdisciplinary Reviews - RNA
- The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic TherapiesJing Wu, Shuxuan Yan, Yuqin Bian, Rui Liu, Xinxing Lyu, Zhaoxiang Zhang, Shuhong Huang, Tao Chen, Lin Cheng · 2025 · Journal of Neurochemistry
- Tandem repeats in human brain evolution and disease susceptibilityHyeji Lee, Joon‐Yong An · 2026 · Molecules and Cells
- Four‐repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardationYuri Mizuno, Norihisa Maeda, Hideomi Hamasaki, Hajime Arahata, Naokazu Sasagasako, Hiroyuki Honda, Naoki Fujii, Toru Iwaki · 2018 · Brain Pathology
- 288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the NetherlandsSaskia Scholten, Janel A. M. Peterson, Lynn B. Orriëns, Luca Pastorelli, Giovanni Meola, Benedikt G. H. Schoser, Hilde M. H. Braakman, Saskia Scholten, Janel Peterson, Lynn Orriëns et al. · 2025 · Neuromuscular Disorders
- Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegansJoana Teixeira, Anu-Mari Harju, Alaa Othman, Ove Eriksson, Brendan James Battersby, Susana M. D. A. Garcia · 2024 · Genetics
- Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencingKazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta, Masayuki Nakamori, Kimiko Inoue, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Takashi Kimura · 2023 · Neuroscience Research
- Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy – September 24–26, 2015, Ottawa, CanadaJodi Warman‐Chardon, Bernard Jean Jasmin, Rashmi Kothary, Robin J. Parks · 2016 · Journal of Neuromuscular Diseases
- From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophyClaudia Alberti, Valeria Parente, Stefania Paola Corti, Valeria Sansone · 2025 · Neurobiology of Disease
- MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotilityJanel A. M. Peterson, Jesus A. Frias, Andrew N. Miller, Krishnakant G. Soni, Yi Zhang, Zheng Xia, John Day, Geoffrey A. Preidis, Thomas A. Cooper · 2025 · Proceedings of the National Academy of Sciences
- Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophyAlex Chun Koon, Ka Yee Winnie Yeung, Yitao Wu, Lok I Leong, John Tsun Po Cheung, Zhefan Stephen Chen, Shaohong Isaac Peng, Noah S. Armstrong, C. Andrew Frank, Paul Magneron et al. · 2025 · Nature Communications
- MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophyThiéry De Serres‐Bérard, Maya L. Gosztyla, Grady G. Nguyen, Gene Wei-Ming Yeo, Jack Puymirat, Mohamed Chahine · 2026 · Neurobiology of Disease
- Muscleblind-like proteins are novel modulators of the tumor-immune microenvironmentAustin M. Gabel, Edie I. Crosse, Andrea E. Belleville, Simon J. Hogg, Siegen A. McKellar, Omar Ibrahim Abdel-Wahab, James D. Thomas, Robert K. Bradley · 2025 · PLoS ONE
- Molecular Mechanisms of Myotonic Dystrophy: RNA-Mediated Pathogenesis and RNA-Binding ProteinsYoshihiro Kino, Jun‐ichi Satoh, Shoichi Ishiura · 2018 · Springer eBooks
- Neurodegeneration induces a developmental RNA processing program by calpain-mediated MBNL2 degradationLee‐Hsin Wang, Yu-Mei Lin, Chien‐Yu Lin, Yijuang Chern, Guey‐Shin Wang · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- RNA-Seq Analysis Reveals Localization-Associated Alternative Splicing across 13 Cell LinesChao Zeng, Michiaki Hamada · 2020 · Genes
- The myotonic dystrophiesRichard T. Moxley, James E. Hilbert, Giovanni Meola · 2020 · Elsevier eBooks
- Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1Mougina K. Eltahir, Masayuki Nakamori, Satoshi Hattori, Takashi Kimura, Hideki Mochizuki, Seiichi Nagano · 2022 · PLoS ONE
- Muscle-driven spinal cord histological and transcriptomic alterations in a myotonic dystrophy mouse model: insights into neuropathyGuanzhong Shi, Yining Luan, Yuzhen Ouyang, Kangzhi Chen, Kai-Yue Zhang, Zeyi Wen, Huan Yang, Kun Huang · 2025 · Brain Communications
- MBNL proteins in health, disease, and therapeutic applicationsNikola Musiała, Patryk Konieczny, Patrycja Plewka, Adam Jasiok, Ewa Stępniak-Konieczna · 2026 · Nucleic Acids Research
- El papel de los RNAs no-codificantes en la patogénesis de la distrofia miotónica tipo 1Nadia Mireya Murillo-Melo, Fabiola V. Borbolla‐Jiménez, Óscar Hernández‐Hernández, Jonathan J. Magaña · 2022 · Investigación en Discapacidad
- The myotonic dystrophiesRichard T. Moxley, James E. Hilbert, Giovanni Meola · 2024 · Elsevier eBooks
- Análise dos genes COL8A2 e SLC4A11 e da expansão intrônica TGC no gene TCF4 em famílias portadoras da distrofia endotelial corneana de FuchsCaique Martins · 2016
- Regulation of Local Translation, Synaptic Plasticity, and Cognitive Function by CNOT7Rhonda L. McFleder · 2017 · The Journal of the American Medical Association (JAMA) Network (American Medical Association)
- Molecular Defects in the DM Central Nervous SystemTakashi Kimura · 2018 · Springer eBooks
- RNA-Mediated Metabolic Defects in Microsatellite Expansion DiseasesNan Zhang · 2021 · Springer eBooks
- RNA nucleotide repeats induce mitochondrial dysfunction and the ribosome-associated quality controlJoana Teixeira, Anu-Mari Harju, Alaa Othman, Ove Eriksson, Ana S. Brandão, Brendan James Battersby, Susana M. D. A. Garcia · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
- Musleblind-1 regulates microtubule cytoskeleton in C. elegans mechanosensory neuron through tubulin mRNAsDharmendra Puri, Sarbani Samaddar, Sourav Banerjee, Anindya Ghosh‐Roy · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA-sequenceKazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta, Masayuki Nakamori, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Takashi Kimura · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- The AUUUC repeat RNA aggregates sequester RNA-binding proteins like NOVA2 and lead to iron dyshomeostasis in spinocerebellar ataxia type 37Ana Sofia Figueiredo, Joana R. Loureiro, Paula Sampaio, Hugo Osório, Montserrat Soler‐López, José Bessa, Sylvain Bohic, Sandra Macedo‐Ribeiro, Isabel Silveira · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencingXinbo Ji, Ruiyan Zhang, Didi Shan, Tongwei Shi, Yingxin Wang, Yao Tang, Zexin Zhan, Yichang Jiao, Hongxu Wang, Jianing Li et al. · 2025 · Genomics
- Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1Elisabetta Golini, Aline Huguet-Lachon, Hélène Benyamine, Noëmy Gueriba, Ferdinando Scavizzi, Marcello Raspa, Germana Falcone, Beatrice Cardinali, Silvia Mandillo, Geneviève Gourdon · 2026 · Journal of Neuromuscular Diseases
- RNA Therapy in Muscle DiseasesDongchao Lu, Jin Li · 2026 · Physiology
- Forces that shape the transcriptome: Linking cellular mechanosensing to mRNA splicingPavel Šimara, Cristina Mazzotti, Gokula Narayanan, Marco Cassani, Stefania Pagliari, Giancarlo Forte · 2026 · Journal of Biological Chemistry
- The study of the consequences of serca1’s missplicing on muscle function in myotonic dystrophy type 1Damily De dea diniz · 2018
- Étude de la fonction des protéines MBNL au cours du développement à l’aide de cellules souches humaines induites à la pluripotenceAntoine Mérien · 2021
- Large-scale tethered screen of RNA-binding proteins reveals novel regulators of poly(A) site selectionPratibha Jagannatha, Yoseop Yoon, Samuel B. Landry, Jack T. Naritomi, Lijun Zhan, Sara Olson, Xintao Wei, Lena Annika Street, Liang Liu, Joshua Jeong et al. · 2026 · Molecular Cell
- Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC modelsSurya Chandra Rao Thumu, Jean Patrick M. Gonzales, Soha Munir, Connor Tuck, Oscar Dominguez, S Shyamkishor Singh · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Alternative splicing dysregulation in CAG repeat expansion diseasesAsmer Aliyeva, John D. Cleary, Hannah K. Shorrock, J. Andrew Berglund · 2026 · Trends in Neurosciences
- VO659, a CAG repeat-targeting antisense oligonucleotide, lowers multiple neurotoxic mutant huntingtin proteins in Huntington’s diseaseBas Röttgering, Rudie Weij, Suzanne Bijl, Ruurd C. Verheul, Janwillem Testerink, Lodewijk J.A. Toonen, Robert M. Bragg, Jeffrey B. Carroll, Chantal Beekman, Nicole A. Datson · 2026 · bioRxiv (Cold Spring Harbor Laboratory)