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While the role of IR is well established in species of plant, fungi, insects and viruses, it remains relatively understudied in mammalian biology. It was previously assumed that IR only played a limited role in downregulating a transcript\u2019s translation potential through downstream initiation of nuclear detention or nonsense mediated decay (NMD). However, recent studies highlight IR\u2019s significantly more complex and dynamic contribution to cellular physiology and disease. In particular, a role for IR is emerging in both health and neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), a rapidly progressive and invariably fatal disease that renders patients paralysed and unable to eat, speak or breathe. Significant technological advances now permit a comprehensive interrogation of previously unrecognized aspects of RNA metabolism in clinically relevant human cell types.<\/jats:p>\n                  <jats:p>In this review, we focus on the differential role(s) of nuclear and cytoplasmic intron retaining transcripts (nIRTs and cIRTs, respectively), as well as how IRTs may influence subcellular localization of ribonucleoprotein (RNP) complexes, loss of function of bound RNA binding proteins (RBPs) and liquid-liquid phase separation (LLPS) in physiology and disease. Additionally, we discuss the potential of IRTs as independent regulatory elements beyond their protein-coding functions and highlight how artificial intelligence is poised to accelerate discoveries in this area. In the context of IR\u2019s increasing appreciation, we also highlight its potential as a therapeutic target and explore current and future challenges in this burgeoning field.<\/jats:p>","DOI":"10.1093\/brain\/awag142","type":"journal-article","created":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T11:40:43Z","timestamp":1776598843000},"page":"2604-2618","source":"Crossref","is-referenced-by-count":1,"title":["Intron retention in health and amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"149","author":[{"given":"Chloe Y","family":"Wang","sequence":"first","affiliation":[{"name":"The University of California , Los Angeles, CA 90095 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"The Francis Crick Institute Laboratory for Human Stem Cells and Neurodegeneration, , London NW1 1AT ,","place":["UK"]},{"name":"Queen Square Institute of Neurology, UCL Department of Neurodegenerative Disease, , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virenkumar A","family":"Pandya","sequence":"additional","affiliation":[{"name":"Royal Free London NHS Foundation Trust , London NW3 2QG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin E","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"The Francis Crick Institute Laboratory for Human Stem Cells and Neurodegeneration, , London NW1 1AT ,","place":["UK"]},{"name":"Neurobiology Programme, Life Sciences Institute, Centre for Life Sciences, National University of Singapore , 117456 Singapore ,","place":["Singapore"]},{"name":"Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore , 119228 Singapore ,","place":["Singapore"]},{"name":"Department of Anatomy, Yong Loo Lin School of Medicine, National University of Singapore , 117594 Singapore ,","place":["Singapore"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koustav","family":"Pal","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"The Francis Crick Institute Laboratory for Human Stem Cells and Neurodegeneration, , London NW1 1AT ,","place":["UK"]},{"name":"Neurobiology Programme, Life Sciences Institute, Centre for Life Sciences, National University of Singapore , 117456 Singapore ,","place":["Singapore"]},{"name":"Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore , 119228 Singapore 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Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital , Oxford OX3 9DU ,","place":["UK"]},{"name":"Kavli Institute for Nanoscience Discovery, University of Oxford , Oxford OX1 3QU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00eblle","family":"Luisier","sequence":"additional","affiliation":[{"name":"Swiss Institute of Bioinformatics , Lausanne 1015 ,","place":["Switzerland"]},{"name":"Department for BioMedical Research, University of Bern , Bern 3008 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3825-7675","authenticated-orcid":false,"given":"Rickie","family":"Patani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"The Francis Crick Institute Laboratory for Human Stem Cells and Neurodegeneration, , London NW1 1AT ,","place":["UK"]},{"name":"Queen Square Institute of Neurology, UCL Department of Neurodegenerative Disease, , London WC1N 3BG ,","place":["UK"]},{"name":"Neurobiology Programme, Life Sciences Institute, Centre for Life Sciences, National University of Singapore , 117456 Singapore ,","place":["Singapore"]},{"name":"Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore , 119228 Singapore ,","place":["Singapore"]},{"name":"Department of Anatomy, Yong Loo Lin School of Medicine, National University of Singapore , 117594 Singapore ,","place":["Singapore"]},{"name":"Yong Loo Lin School of Medicine, National University of Singapore, 119228 Neuroscience Translational Research Programme, \u00a0 Singapore 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