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

  1. Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation‐induced trans‐cortical reflexes
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  2. The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism
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  3. Altered Behavioral Responses Show GABA Sensitivity in Muscleblind-Like 2-Deficient Mice: Implications for CNS Symptoms in Myotonic Dystrophy
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  6. 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
  7. Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brain
    Pei-Ying Wang, Ting‐Yu Kuo, Lee‐Hsin Wang, Wen-Hsing Liang, Guey‐Shin Wang · 2023 · Acta Neuropathologica Communications
  8. 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
  9. RNA gain-of-function mechanisms in short tandem repeat diseases
    Mackenzie L. Davenport, Maurice S. Swanson · 2024 · RNA
  10. Regulation of Toxic RNA Foci and Mutant DMPK Transcripts: Role of MBNL Proteins and RNA Decay Pathways
    Xiaomeng Xing, Róbert Márkus, Tushar Ghosh, Sarah Buxton, Daniel J. Nieves, Marzena Wojciechowska, J. David Brook · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  11. Modulatory role of RNA helicases in MBNL-dependent alternative splicing regulation
    Katarzyna 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
  12. Alternative Splicing and CaV ‐Associated Channelopathies
    Willy Munyao, Md. Mostafizur Rahman, Samuel Sabzanov, Elizabeth H. Chu, Ruizhi Wang, Zhifei Wang, Yong Yu, Matteo Ruggiu · 2025 · Wiley Interdisciplinary Reviews - RNA
  13. The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies
    Jing Wu, Shuxuan Yan, Yuqin Bian, Rui Liu, Xinxing Lyu, Zhaoxiang Zhang, Shuhong Huang, Tao Chen, Lin Cheng · 2025 · Journal of Neurochemistry
  14. Tandem repeats in human brain evolution and disease susceptibility
    Hyeji Lee, Joon‐Yong An · 2026 · Molecules and Cells
  15. Four‐repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardation
    Yuri Mizuno, Norihisa Maeda, Hideomi Hamasaki, Hajime Arahata, Naokazu Sasagasako, Hiroyuki Honda, Naoki Fujii, Toru Iwaki · 2018 · Brain Pathology
  16. 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 Netherlands
    Saskia 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
  17. Coenzyme Q improves mitochondrial and muscle dysfunction caused by CUG expanded repeats in Caenorhabditis elegans
    Joana Teixeira, Anu-Mari Harju, Alaa Othman, Ove Eriksson, Brendan James Battersby, Susana M. D. A. Garcia · 2024 · Genetics
  18. Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing
    Kazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta, Masayuki Nakamori, Kimiko Inoue, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Takashi Kimura · 2023 · Neuroscience Research
  19. Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy – September 24–26, 2015, Ottawa, Canada
    Jodi Warman‐Chardon, Bernard Jean Jasmin, Rashmi Kothary, Robin J. Parks · 2016 · Journal of Neuromuscular Diseases
  20. From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy
    Claudia Alberti, Valeria Parente, Stefania Paola Corti, Valeria Sansone · 2025 · Neurobiology of Disease
  21. MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility
    Janel 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
  22. Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy
    Alex 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
  23. MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy
    Thiéry De Serres‐Bérard, Maya L. Gosztyla, Grady G. Nguyen, Gene Wei-Ming Yeo, Jack Puymirat, Mohamed Chahine · 2026 · Neurobiology of Disease
  24. Muscleblind-like proteins are novel modulators of the tumor-immune microenvironment
    Austin 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
  25. Molecular Mechanisms of Myotonic Dystrophy: RNA-Mediated Pathogenesis and RNA-Binding Proteins
    Yoshihiro Kino, Jun‐ichi Satoh, Shoichi Ishiura · 2018 · Springer eBooks
  26. Neurodegeneration induces a developmental RNA processing program by calpain-mediated MBNL2 degradation
    Lee‐Hsin Wang, Yu-Mei Lin, Chien‐Yu Lin, Yijuang Chern, Guey‐Shin Wang · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  27. RNA-Seq Analysis Reveals Localization-Associated Alternative Splicing across 13 Cell Lines
    Chao Zeng, Michiaki Hamada · 2020 · Genes
  28. The myotonic dystrophies
    Richard T. Moxley, James E. Hilbert, Giovanni Meola · 2020 · Elsevier eBooks
  29. Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1
    Mougina K. Eltahir, Masayuki Nakamori, Satoshi Hattori, Takashi Kimura, Hideki Mochizuki, Seiichi Nagano · 2022 · PLoS ONE
  30. Muscle-driven spinal cord histological and transcriptomic alterations in a myotonic dystrophy mouse model: insights into neuropathy
    Guanzhong Shi, Yining Luan, Yuzhen Ouyang, Kangzhi Chen, Kai-Yue Zhang, Zeyi Wen, Huan Yang, Kun Huang · 2025 · Brain Communications
  31. MBNL proteins in health, disease, and therapeutic applications
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  32. El papel de los RNAs no-codificantes en la patogénesis de la distrofia miotónica tipo 1
    Nadia Mireya Murillo-Melo, Fabiola V. Borbolla‐Jiménez, Óscar Hernández‐Hernández, Jonathan J. Magaña · 2022 · Investigación en Discapacidad
  33. The myotonic dystrophies
    Richard T. Moxley, James E. Hilbert, Giovanni Meola · 2024 · Elsevier eBooks
  34. Análise dos genes COL8A2 e SLC4A11 e da expansão intrônica TGC no gene TCF4 em famílias portadoras da distrofia endotelial corneana de Fuchs
    Caique Martins · 2016
  35. Regulation of Local Translation, Synaptic Plasticity, and Cognitive Function by CNOT7
    Rhonda L. McFleder · 2017 · The Journal of the American Medical Association (JAMA) Network (American Medical Association)
  36. Molecular Defects in the DM Central Nervous System
    Takashi Kimura · 2018 · Springer eBooks
  37. RNA-Mediated Metabolic Defects in Microsatellite Expansion Diseases
    Nan Zhang · 2021 · Springer eBooks
  38. RNA nucleotide repeats induce mitochondrial dysfunction and the ribosome-associated quality control
    Joana 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)
  39. Musleblind-1 regulates microtubule cytoskeleton in C. elegans mechanosensory neuron through tubulin mRNAs
    Dharmendra Puri, Sarbani Samaddar, Sourav Banerjee, Anindya Ghosh‐Roy · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  40. Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA-sequence
    Kazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta, Masayuki Nakamori, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Takashi Kimura · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  41. The AUUUC repeat RNA aggregates sequester RNA-binding proteins like NOVA2 and lead to iron dyshomeostasis in spinocerebellar ataxia type 37
    Ana 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)
  42. Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencing
    Xinbo Ji, Ruiyan Zhang, Didi Shan, Tongwei Shi, Yingxin Wang, Yao Tang, Zexin Zhan, Yichang Jiao, Hongxu Wang, Jianing Li et al. · 2025 · Genomics
  43. Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1
    Elisabetta 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
  44. RNA Therapy in Muscle Diseases
    Dongchao Lu, Jin Li · 2026 · Physiology
  45. Forces that shape the transcriptome: Linking cellular mechanosensing to mRNA splicing
    Pavel Šimara, Cristina Mazzotti, Gokula Narayanan, Marco Cassani, Stefania Pagliari, Giancarlo Forte · 2026 · Journal of Biological Chemistry
  46. The study of the consequences of serca1’s missplicing on muscle function in myotonic dystrophy type 1
    Damily De dea diniz · 2018
  47. Étude de la fonction des protéines MBNL au cours du développement à l’aide de cellules souches humaines induites à la pluripotence
    Antoine Mérien · 2021
  48. Large-scale tethered screen of RNA-binding proteins reveals novel regulators of poly(A) site selection
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  49. Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models
    Surya Chandra Rao Thumu, Jean Patrick M. Gonzales, Soha Munir, Connor Tuck, Oscar Dominguez, S Shyamkishor Singh · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  50. Alternative splicing dysregulation in CAG repeat expansion diseases
    Asmer Aliyeva, John D. Cleary, Hannah K. Shorrock, J. Andrew Berglund · 2026 · Trends in Neurosciences
  51. VO659, a CAG repeat-targeting antisense oligonucleotide, lowers multiple neurotoxic mutant huntingtin proteins in Huntington’s disease
    Bas 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)