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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.

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Title: Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.
Authors: Genovese F; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Huang YT; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Motyl AA; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Paganin M; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy., Sharma G; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy., Signoria I; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, Netherlands., Donzel D; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy., Lai NC; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Pronot M; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Kline RA; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom., Chaytow H; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Morris KJ; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Faller KM; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Wishart TM; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.; Centre for Systems Health and Integrated Metabolic Research, Department of Biosciences, School of Science and Technology, Nottingham Trent University, Nottingham, United Kingdom., Groen EJ; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, Netherlands., Cousin MA; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom., Viero G; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy., Gillingwater TH; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.
Source: JCI insight [JCI Insight] 2025 Sep 09; Vol. 10 (20). Date of Electronic Publication: 2025 Sep 09 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
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  Data: Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Genovese+F%22">Genovese F</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Huang+YT%22">Huang YT</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Motyl+AA%22">Motyl AA</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Paganin+M%22">Paganin M</searchLink>; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Sharma+G%22">Sharma G</searchLink>; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Signoria+I%22">Signoria I</searchLink>; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Donzel+D%22">Donzel D</searchLink>; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Lai+NC%22">Lai NC</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pronot+M%22">Pronot M</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kline+RA%22">Kline RA</searchLink>; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chaytow+H%22">Chaytow H</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Morris+KJ%22">Morris KJ</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Faller+KM%22">Faller KM</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wishart+TM%22">Wishart TM</searchLink>; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom.; Centre for Systems Health and Integrated Metabolic Research, Department of Biosciences, School of Science and Technology, Nottingham Trent University, Nottingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Groen+EJ%22">Groen EJ</searchLink>; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Cousin+MA%22">Cousin MA</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Viero+G%22">Viero G</searchLink>; Institute of Biophysics, Consiglio Nazionale delle Ricerche, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Gillingwater+TH%22">Gillingwater TH</searchLink>; Edinburgh Medical School: Biomedical Sciences and Euan MacDonald Centre for Motor Neuron Disease Research, The University of Edinburgh, Edinburgh, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2025 Sep 09; Vol. 10 (20). <i>Date of Electronic Publication: </i>2025 Sep 09 (<i>Print Publication: </i>2025).
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