ArticleProceedings of the National Academy of Sciences of the United States of America2025
Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation.
Abstract read
In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
–field-weighted citation impact
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.Nucleic acids research · 2026Article
- Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.bioRxiv : the preprint server for biology · 2026Article
- N7-Methylguanosine Modification in Colorectal Cancer: Molecular Insights and Clinical Implications.International journal of molecular sciences · 2026Review
- Article
- Intron 1 of theProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
Corrections and comments
- Commented on byIntron 1 of the2025
Authors and funding
13 authors.
Shannon L MillerDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0003-3418-8067
Katelyn M GreenDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0001-5562-9920
Bradley CroneDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0003-4582-4137
Jessica A SwitzenbergDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109.
Elizabeth M H TankDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0002-1965-2012
Amy KransDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.
Karen Jansen-WestDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224.
Clare M WielandDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0002-7129-3475
Eric W JiDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0009-0005-8846-3361
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224.
Sami J BarmadaDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0002-9604-968X
Alan P BoyleDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109.
Peter K ToddDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109.ORCID 0000-0003-4781-6376
Funding
Research Education ComponentP30AG072931 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Kelly Bakulski · 2021 to 2026
$26.5MExpanding insights into FTD disease mechanismsR35NS097273 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2017 to 2024
$10.6MHexanucleotide repeat translation in ALS and Frontotemporal DementiaR01NS099280 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Peter K Todd · 2016 to 2026
$4.9MRNA decay in amyotrophic lateral sclerosis and frontotemporal lobar degenerationR01NS097542 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2016 to 2025
$3.8MAtypical TDP43 isoforrms driving neurodegeneration in FTD/ALSR01NS113943 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2020 to 2024
$1.9MMobile element derived chromatin looping variability in human populationsR01GM144484 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P · 2022 to 2025
$1.6MNew technologies for accurate capture and sequencing of repeat-associated regionsR21HG011493 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P, MILLS, RYAN E · 2021 to 2022
$643kSpatiotemporal analysis of TDP-43 toxicity and endolysosomal turnover mechanismsR56NS128110 · NINDS · UNIVERSITY OF ARIZONA · PI BARMADA, SAMI, BUCHAN, JOHN ROSS · 2022 to 2022
$393kDetermining the role of RNA-based factors in RAN translation of C9ALS/FTD-associated GGGGCC repeatsF31NS100302 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI GREEN, KATELYN MARIE · 2017 to 2019
$125kBLRD VA I01 BX004842HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) F31127371HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) F31NS100302HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS097542 P01NS08497 and R35NS097273HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS099280HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS113943 and 1R56NS128110HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R21HG011493 and R01GM144484NHGRI NIH HHS R21 HG011493NIA NIH HHS P30 AG072931NIGMS NIH HHS R01 GM144484NINDS NIH HHS F31 NS100302NINDS NIH HHS R01 NS097542NINDS NIH HHS R01 NS099280NINDS NIH HHS R01 NS113943NINDS NIH HHS R35 NS097273NINDS NIH HHS R56 NS128110U.S. Department of Veterans Affairs (VA) BLRD BX004842
Abstract
Intronic GGGGCC hexanucleotide repeat expansions in
Indexed as
C9orf72 ProteinIntronsProtein Biosynthesisran GTP-Binding ProteinRNA, MessengerAmyotrophic Lateral SclerosisAnimalsDNA Repeat ExpansionFrontotemporal DementiaHumansMiceTranscription, GeneticC9orf72 ProteinC9orf72 protein, humanran GTP-Binding ProteinRNA, MessengerALSneurodegenerationrepeat expansion diseasetranscriptiontranslation
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.