ArticleNeuron2017
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
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Article in Neuron, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers.
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158 citing papers in PubMed, 235 citations in OpenAlex.
- Two dipeptide repeat proteins are produced from mammalian telomeric RNA previously thought to be a long non-coding RNA.RNA biology · 2026Review
- Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo-Electron Tomography.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
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- The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein.Nucleic acids research · 2026Article
- Enzymology of the metazoan tRNA ligase complex: a lifetime in cycles.Cellular and molecular life sciences : CMLS · 2026Review
- Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.Journal of neurodevelopmental disorders · 2026Article
- MBNL proteins in health, disease, and therapeutic applications.Nucleic acids research · 2026Review
- Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.Acta neuropathologica communications · 2026Article
- The Tale of the Guanosine Tract in Repeat Expansion Disorders.Molecular neurobiology · 2026Review
- 'Non-coding' GGC repeats are translated into toxic polyglycine proteins in neuromuscular diseases.Nature genetics · 2026Article
- GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.Nature genetics · 2026Article
- Article
- Blocking RAN translation without altering repeat RNAs rescuesScience (New York, N.Y.) · 2026Article
- Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.Nature communications · 2026Article
- IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats.Nature communications · 2025Article
- Article
- Lacosamide Interaction with Expanded CGG Repeats RNA and Its Role in Modulating Poly-Glycine Protein-Mediated Toxicity in Fragile‑X Tremor/Ataxia Syndrome.ACS pharmacology & translational science · 2025Article
- Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025Article
- Birth-Death Dynamics of Microsatellites: Mechanistic Insights from Orthologous Loci in Felidae.Genes · 2025Article
- Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.Brain : a journal of neurology · 2025Article
98 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 11 institutions in 3 countries.
Chantal SellierInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France. Electronic address: sellier@igbmc.fr.
Ronald A M BuijsenDepartment of Clinical Genetics, Erasmus MC, 3015 Rotterdam, the Netherlands.
Fang HeDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109, USA; Veteran Association Health System, Ann Arbor, MI 48105, USA; Department of Biological and Health Sciences, Texas A&M University - Kingsville, Kingsville, TX 78363, USA.
Sam NatlaDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
Laura JungInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Philippe TropelInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Angeline GaucherotInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Hugues JacobsInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Hamid MezianeInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Alexandre VincentInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Marie-France ChampyInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Tania SorgInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Guillaume PavlovicInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Marie Wattenhofer-DonzeInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Marie-Christine BirlingInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; PHENOMIN, Institut Clinique de la Souris (ICS), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Mustapha Oulad-AbdelghaniInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Pascal EberlingInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Frank RuffenachInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Mathilde JointInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France.
Mathieu AnheimDepartment of Neurology, University Hospital of Strasbourg, Hôpital de Hautepierre, 67200 Strasbourg, France.
Veronica Martinez-CerdenoDepartment of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA 95817, USA; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA 95817, USA; M.I.N.D. Institute, University of California, Davis, Health System, Sacramento, CA 95817, USA.
Flora TassoneM.I.N.D. Institute, University of California, Davis, Health System, Sacramento, CA 95817, USA.
Rob WillemsenDepartment of Clinical Genetics, Erasmus MC, 3015 Rotterdam, the Netherlands.
Renate K HukemaDepartment of Clinical Genetics, Erasmus MC, 3015 Rotterdam, the Netherlands.
Stéphane VivilleInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, UF3472 - Infertilité, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France; IPPTS, 3 rue Koeberlé, 67000 Strasbourg, France.
Cecile MartinatINSERM/UEVE UMR 861, I-STEM, AFM, 91030 Evry, France.
Peter K ToddDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109, USA; Veteran Association Health System, Ann Arbor, MI 48105, USA.
Nicolas Charlet-BerguerandInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France. Electronic address: ncharlet@igbmc.fr.
Université de Strasbourg · FRCentre National de la Recherche Scientifique · FRInstitut de génétique et de biologie moléculaire et cellulaire · FRInserm · FRUniversity of Michigan–Ann Arbor · USErasmus MC · NLUniversity of California, Davis · USErasmus University Rotterdam · NLHôpital Civil, Strasbourg · FRHôpital d'Hautepierre · FRInstitut Clinique de la Souris · FR
Funding
Hexanucleotide repeat translation in ALS and Frontotemporal DementiaR01NS099280 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Peter K Todd · 2016 to 2026
$4.9MCGG repeat associated translation in Fragile X-associated Tremor/Ataxia Syndrome-Diversity SupplementR01NS086810 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI TODD, PETER K · 2014 to 2024
$4.1MMouse Models to Define Critical Periods and Molecular Targets in FXTASR01NS079775 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERMAN, ROBERT F · 2013 to 2017
$1.7MRNA Dominant Mechanisms in ALSI21BX001841 · VA · VETERANS HEALTH ADMINISTRATION · PI TODD, PETER K · 2014 to 2015
–BLRD VA I21 BX001841European Research Council 310659NINDS NIH HHS R01 NS079775NINDS NIH HHS R01 NS086810NINDS NIH HHS R01 NS099280
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not. FMRpolyG interacts with the nuclear lamina protein LAP2β and disorganizes the nuclear lamina architecture in neurons differentiated from FXTAS iPS cells. Finally, expression of LAP2β rescues neuronal death induced by FMRpolyG. Overall, these results suggest that translation of expanded CGG repeats into FMRpolyG alters nuclear lamina architecture and drives pathogenesis in FXTAS.
Indexed as
Protein BiosynthesisAnimalsAtaxiaBrainDNA-Binding ProteinsFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHumansMaleMembrane ProteinsMiceMice, TransgenicNuclear LaminaPeptidesReal-Time Polymerase Chain ReactionRNA, MessengerDNA-Binding ProteinsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1lamina-associated polypeptide 2Membrane ProteinsPeptidespolyglycineRNA, Messengermicrosatellite expansionnear-cognate codonneurodegenerationRAN translation
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