Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders

Quesnel-Vallières, Mathieu, Dargaei, Zahra, Irimia, Manuel, Gonatopoulos-Pournatzis, Thomas, Ip, Joanna Y., Wu, Mingkun, Sterne-Weiler, Timothy, Nakagawa, Shinichi +3 more·2016·Molecular Cell
DOI 10.1016/j.molcel.2016.11.033

Cited by (179)

Items 101–179 of 179

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  13. Differential splicing choices made by neurons and astrocytes and their importance when investigating signal-dependent alternative splicing in neural cells
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  14. Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene
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  15. Reverse engineering neuron type-specific and type-orthogonal splicing-regulatory networks using single-cell transcriptomes
    Daniel F. Moakley, Melissa Campbell, Miquel Anglada-Girotto, Huijuan Feng, Andrea Califano, Edmund Au, Chaolin Zhang · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  16. Phenotypic impact of individual conserved neuronal microexons and their master regulators in zebrafish
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  17. An N‐terminal and ankyrin repeat domain interactome of Shank3 identifies the protein complex with the splicing regulator Nono in mice
    Sayaka Okuzono, Fumihiko Fujii, D. Setoyama, Ryoji Taira, Yohei Shinmyo, Hiroki Kato, Keiji Masuda, Kousuke Yonemoto, Satoshi Akamine, Yuki Matsushita et al. · 2024 · Genes to Cells
  18. The origin of neural microexons
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  19. Functional genomics of psychiatric disease risk using genome engineering
    Meilín Fernández García, Samuel K. Powell, Elizabeth A. LaMarca, Michael B. Fernando, Sophie Cohen, Gang Fang, Schahram Akbarian, Kristen Brennand · 2021 · Elsevier eBooks
  20. Alternative microexon splicing code for a four-amino acid peptide of PTPRD governs behavioral development
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  21. The “cutting edge” of non-canonical RNA splicing
    Jiusi Guo · 2026 · Frontiers in Molecular Biosciences
  22. Cortical transcriptomic dysregulation in Autism spectrum disorder: A conceptual synthesis
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  23. Neuroligins and neurexins
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  24. Abnormality in GABAergic postsynaptic transmission associated with anxiety in Bronx waltzer mice with an Srrm4 mutation
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  25. A comparison of basal and activity-dependent exon splicing in cortical-patterned neurons of human and mouse origin
    Owen Dando, Jamie McQueen, Karen Burr, Peter C. Kind, Siddharthan Chandran, Giles E. Hardingham, Jing Qiu · 2024 · Frontiers in Molecular Neuroscience
  26. ARC Expands the DAAM1 Microexon‐Mediated Actin– RHOA / ROCK Interplay
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  27. Prediction of functional microexons by transfer learning
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  28. Cell type specific profiling of alternative translation identifies novel protein isoforms in the mouse brain
    Darshan Sapkota, Allison M. Lake, Wei Cheng Yang, Chengran Yang, Hendrik Wesseling, Amanda J. Guise, Ceren Uncu, Jasbir Singh Dalal, Andrew W. Kraft, Jin‐Moo Lee et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
  29. Chromatin-mediated alternative splicing regulates cocaine reward behavior
    Song‐Jun Xu, Sonia I Lombroso, Marco D. Carpenter, Dylan M. Marchione, Peter J. Hamilton, Carissa J. Lim, Rachel L. Neve, Elizabeth A. Heller · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  30. A transcriptomic census reveals that Rbfox contributes to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus
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  32. Phenotypic impact of individual conserved neuronal microexons and their master regulators in zebrafish
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  33. Meta-analysis of activated neurons reveals dynamic regulation of diverse classes of alternative splicing
    Keegan S. Krick, Marissa J. Maroni, Erica Korb, Kristen W. Lynch, Elizabeth A. Heller · 2025 · Genome Research
  34. Neural microexons modulate arousal states via cAMP signalling in zebrafish
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  35. A Genome-Scale Analysis of Alternative Splicing Regulation by Splicing Factors in C. elegans
    June H. Tan · 2018 · TSpace (University of Toronto)
  36. Functional impact of alternative splicing in vertebrate proteomes across tissues and cell types
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  37. Epigenetic requisites of the Cambrian explosion
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  38. Genomics of autism spectrum disorders
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  39. Loss of Setd1b methyltransferase in the murine forebrain as a novel model for human intellectual disability
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  40. Promoter Selection and Smith-Magenis Syndrome Protein Retinoic Acid Induced-1 in Neuronal Activity-Dependent Transcription
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  41. Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance, and clinical applications
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  42. e-Government web-content production challenges.
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  43. Dysregulated Spliceosome Gene Expression May Be a Common Process in Brains of Neurological and Psychiatric Disorders
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  44. Control of pancreatic islet function and glucose homeostasis by a novel microexon program misregulated in type 2 diabetes
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  45. Essential Role of nSR100 and CPEB4 Proteins During the Development of the Nervous System
    Swarnalatha Gadde Venkata, Senthilkumar Rajagopal · 2022 · Nutritional neurosciences
  46. Evolutionary divergence of basal and activity-dependent exon splicing in cortical neurons
    Owen Dando, Jing Qiu, Siddharthan Chandran, Giles E. Hardingham · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  47. Characterization of Alternative Splicing During Mammalian Brain Development Reveals the Magnitude of Isoform Diversity and its Effects on Protein Conformational Changes
    Leila Haj Abdullah Alieh, Beatriz Cardoso de Toledo, Anna Hadarovich, Ágnes Tóth-Petróczy, Federico Calegari · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  48. Translational study on the role of genetic and prenatal risk factors in neurodevelopmental psychiatric disorders
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  49. CB1 receptor inhibition in fragile X syndrome mice impacts alternative splicing alterations in hippocampal synaptoneurosomal transcriptome
    Lucía de los Reyes‐Ramírez, Laura Ciaran‐Alfano, Marina Reixachs‐Solé, Araceli Bergadà‐Martínez, Lorena Galera-López, Sara Martínez‐Torres, Alba Navarro-Romero, Rafael J. Maldonado, Eduardo Eyras, Andrés Ozaita · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  50. Activity-dependent splicing: A game changer for proteome remodeling in the brain
    Oriane Mauger · 2025 · Current Opinion in Neurobiology
  51. Phenotypic impact of individual conserved neuronal microexons and their master regulators in zebrafish
    Laura López-Blanch, Cristina Rodríguez-Marin, Federica Mantica, L. Iñiguez, Jon Permanyer, Elizabeth M Kita, Tahnee Mackensen, Mireia Codina-Tobias, Francisco Romero-Ferrero, Jordi Fernández‐Albert et al. · 2025 · eLife
  52. Paxillin’s nuclear switch: orchestrating gene splicing for brain plasticity
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  53. Trans-cellular control of synapse properties by a cell type-specific splicing regulator
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  54. Additional file 10 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  55. Additional file 8 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  56. Additional file 5 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  57. Additional file 18 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  58. Additional file 6 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  59. Additional file 15 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  60. Additional file 16 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  61. Additional file 9 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  62. Additional file 7 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  63. Additional file 14 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  64. Additional file 17 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  65. Additional file 4 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  66. Additional file 12 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  67. Additional file 1 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  68. Additional file 11 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  69. Additional file 19 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  70. Additional file 3 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  71. Additional file 13 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  72. Additional file 2 of Neuronal activity regulates alternative exon usage
    Johanna Denkena, Andrea Zaisser, Barbara Merz, Bertram Klinger, Dietmar Kuhl, Nils Blüthgen, Guido Hermey · 2020 · Figshare
  73. Conservation of extended sequence and structure in the branchpoint-to-3’ splice site region upstream of neural microexons
    Alexandra Randazza, Kathryn E. Howe, John R. McCoy, Abigail Hatfield, Tara T. Doucet-O’Hare, Lela Lackey · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  74. Neuronal microexons modulate arousal via the cAMP-PKA-CREB pathway in zebrafish
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  75. Prenatal BPA exposure perturbs RNA-binding protein-mediated splicing regulation and synaptogenesis in the developing cerebellum in a sex-dependent manner
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  76. Alternative splicing of a species- and skeletal muscle-specific microexon diversifies the menu of clathrin heavy chains in mice and rats
    R. Eric Blue, Adam J. Black, Jessica L. Cote, Sumaya A. Addish, Archishma Kavalipati, Scott P. Lyons, Jennifer Ashley Ezzell, Steven C. Bremmer, Daniel Dominguez, Jimena Giudice · 2026 · iScience
  77. CB1 receptor inhibition restores synaptoneurosomal alternative splicing landscape in fragile X syndrome mice
    Lucía de los Reyes‐Ramírez, Laura Ciaran‐Alfano, Marina Reixachs‐Solé, Araceli Bergadà‐Martínez, Lorena Galera-López, Sara Martínez‐Torres, Alba Navarro-Romero, Rafael J. Maldonado, Eduardo Eyras, Andrés Ozaita · 2026 · iScience
  78. A microexon regulatory code reveals autism-linked genetic variation
    Guillermo E. Parada, Hannes Bretschneider, Jack Daiyang Li, Jacob L. Fine, Steven J. Dupas, Jonathan D. Ellis, Ulrich Braunschweig, Sophie Bonnal, Taykhoom Dalal, Worrawat Engchuan et al. · 2026 · Nature
  79. Convergent molecular pathways and shared genetic mechanisms in classic syndromic autism spectrum disorders: a narrative review
    Ryan Bourgaize, Aderonke O. Oyetunji, Merlin G. Butler · 2026 · Frontiers in Genetics