ArticleCell reports2020
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.
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Article in Cell reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
3.3field-weighted citation impact, top 6% of its field
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Who cites it
32 citing papers in PubMed, 48 citations in OpenAlex.
- Insights into X-linked Dystonia-Parkinsonism and Spinocerebellar Ataxia type 36 Through the Lens of Amyotrophic Lateral Sclerosis/Frontotemporal Dementia.Molecular neurobiology · 2026Review
- Neural Stem Cell-Derived Extracellular Vesicles Improve CNS Delivery and Therapeutic Efficacy of Antisense Oligonucleotide in Amyotrophic Lateral Sclerosis.Journal of extracellular vesicles · 2026Article
- Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias.Cells · 2026Review
- Upstream non-AUG initiation and ribosomal -1 frameshifting in ATXN8OS CTA/CTG repeat-associated translation.Nucleic acids research · 2026Article
- Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.Cell reports · 2026Article
- A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.PLoS genetics · 2025Article
- TMEM106B deficiency leads to alterations in lipid metabolism and obesity in the TDP-43Communications biology · 2025Article
- C9orf72-linked arginine-rich dipeptide repeats aggravate pathological phase separation of G3BP1.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.Journal of human genetics · 2024Article
- ALS' Perfect Storm:Cells · 2024Review
- Mitochondrial Dysfunction in Repeat Expansion Diseases.Antioxidants (Basel, Switzerland) · 2023Review
- Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.Molecular cell · 2023Article
- Aberrant phase separation is a common killing strategy of positively charged peptides in biology and human disease.bioRxiv : the preprint server for biology · 2023Article
- A Chinese SCA36 pedigree analysis ofFrontiers in genetics · 2023Article
- Structures and conformational dynamics of DNA minidumbbells in pyrimidine-rich repeats associated with neurodegenerative diseases.Computational and structural biotechnology journal · 2023Review
- CRISPR interference to evaluate modifiers ofFrontiers in cell and developmental biology · 2023Article
- Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation.Biological & pharmaceutical bulletin · 2023Review
- Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5.ACS chemical biology · 2022Article
- Article
- ABiomedicines · 2022Article
Corrections and comments
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Authors and funding
23 authors at 8 institutions in 2 countries.
Tiffany W ToddDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Zachary T McEachinDepartment of Cell Biology, Emory University, Atlanta, GA 30322, USA; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA; Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA.
Jeannie ChewDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Alexander R BurchDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Karen Jansen-WestDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jimei TongDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Mei YueDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Yuping SongDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Monica Castanedes-CaseyDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Aishe KurtiDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Judith H DunmoreDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
John D FryerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Yong-Jie ZhangDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Beatriz San MillanRare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Pathology Department, Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, Spain.
Susana Teijeira BautistaRare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain; Pathology Department, Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, Spain.
Manuel AriasNeurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain; Department of Neurology, Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain.
Dennis DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Tania F GendronDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
María-Jesús SobridoNeurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain; Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.
Matthew D DisneyDepartment of Chemistry, The Scripps Research Institute, Scripps Florida, Jupiter, FL 33458, USA.
Gary J BassellDepartment of Cell Biology, Emory University, Atlanta, GA 30322, USA; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA; Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA.
Wilfried RossollDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: rossoll.wilfried@mayo.edu.
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: petrucelli.leonard@mayo.edu.
Mayo Clinic in Florida · USComplejo Hospitalario Universitario de Santiago · ESGalicia Sur Biomedical Foundation · ESGeorgia Institute of Technology · USScripps Research Institute · USServicio Gallego de Salud · ESThe Wallace H. Coulter Department of Biomedical Engineering · USUniversity Hospital Complex Of Vigo · ES
Funding
Project 3: Neuropathology of the multi-proteinopathy of c9FTD/ALS.P01NS084974 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2014 to 2024
$17.6MExpanding insights into FTD disease mechanismsR35NS097273 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2017 to 2024
$10.6MInnovating Yeast and Human Genetics Approaches to Define Mechanisms of Neurodegenerative DiseaseR35NS097263 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2017 to 2024
$8.6MENNCF - Viral Vector CoreP30NS055077 · NINDS · EMORY UNIVERSITY · PI RESSLER, KERRY J. · 2008 to 2018
$6.8MValidation of r(G4C2)exp-binding small molecules in vivo and c9FTD/ALS biomarker developmentP01NS099114 · NINDS · UNIVERSITY OF FLORIDA · PI DISNEY, MATTHEW D · 2017 to 2021
$6.5MCapturing the molecular complexity of Alzheimer's disease through the lens of RNA binding proteinsRF1AG056318 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LI, HU, WOLOZIN, BENJAMIN L · 2018 to 2020
$4.4MStress Granules and the Biology of TDP-43R01ES020395 · NIEHS · BOSTON UNIVERSITY MEDICAL CAMPUS · PI WOLOZIN, BENJAMIN L · 2012 to 2016
$4.1MNovel genetic modifiers of C9orf72 and Tau toxicityRF1AG062077 · NIA · MAYO CLINIC ARIZONA · PI FRYER, JOHN DAVID, PETRUCELLI, LEONARD · 2019 to 2019
$4.0MRNA Processing Defects in SMA and Their Contribution to the Disease PhenotypeR01NS091749 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSSOLL, WILFRIED · 2015 to 2019
$1.9MSilencing C9or72 with rAAV Mediated RNAiR01NS088689 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI BROWN, ROBERT H., MUELLER, CHRISTIAN · 2014 to 2017
$1.6MRNA foci in C9FTD/ALSR21NS084528 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2013 to 2014
$430kNIA NIH HHS RF1 AG056318NIA NIH HHS RF1 AG062077NIEHS NIH HHS R01 ES020395NINDS NIH HHS P01 NS084974NINDS NIH HHS P01 NS099114NINDS NIH HHS P30 NS055077NINDS NIH HHS R01 NS088689NINDS NIH HHS R01 NS091749NINDS NIH HHS R21 NS084528NINDS NIH HHS R35 NS097263NINDS NIH HHS R35 NS097273
Abstract
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Indexed as
Amyotrophic Lateral SclerosisAnimalsC9orf72 ProteinDNA Repeat ExpansionFrontotemporal DementiaHumansInclusion BodiesMiceNeuronsNuclear ProteinsRNAC9orf72 ProteinC9orf72 protein, humanC9orf72 protein, mouseNOP56 protein, humanNuclear ProteinsRNAALSC9orf72FTDmousepoly(GP)poly(PR)RAN translationRNA fociSCA36TDP-43
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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.