ArticleNature communications2018
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers.
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143citing papers in PubMed
17.7field-weighted citation impact, top 1% of its field
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Who cites it
143 citing papers in PubMed, 202 citations in OpenAlex.
- Astrocytes regulate axonal mitochondrial transport deficits in C9ORF72 amyotrophic lateral sclerosis motor neurons.Nature neuroscience · 2026Article
- Integrative ALS therapy: gene targeted therapy by base editing and potential exercise rehabilitation as synergistic strategies for functional recovery.Physical activity and nutrition · 2026Article
- Striatal neuron dysfunction in C9ORF72-FTD/ALS is driven by AIS and potassium channel dysregulation.Cell reports · 2026Article
- The EH-binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction.Journal of cell science · 2026Article
- Global transcriptional changes across multiple isogeniciScience · 2026Article
- Pharmacological rescue of mitochondrial dysfunction, neurite degeneration, and premature death of ALS and AD iPSC-derived neurons.bioRxiv : the preprint server for biology · 2026Article
- Review
- Article
- Syntaphilin loss enhances mitochondrial axonal transport and neuromuscular junction formation in a human stem cell derived neuromuscular assembloid model.Molecular medicine (Cambridge, Mass.) · 2025Article
- C9orf72 hexanucleotide repeat expansions impair microglial response in ALS.Nature neuroscience · 2025Article
- Enhanced hybridization-proximity labeling discovers protein interactomes of single RNA molecules.Nature communications · 2025Article
- Network Dysfunction Precedes Neurodegeneration in a dox-Regulatable TDP-43 Mouse Model of ALS-FTD.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Temporal transcriptomic profiling of human three-dimensional neuromuscular co-cultures.Biology open · 2025Article
- Lacosamide Is a Novel Drug That Improves AGTPBP1 Knockout-Mediated Impairment of Neuronal and Dopaminergic Function.Molecular neurobiology · 2025Article
- The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.Aging · 2025Article
- Axonal tau reduction ameliorates tau and amyloid pathology in a mouse model of Alzheimer's disease.Translational neurodegeneration · 2025Article
- Memantine inhibits calcium-permeable AMPA receptors.Nature communications · 2025Article
- Therapeutic Approaches for C9ORF72-Related ALS: Current Strategies and Future Horizons.International journal of molecular sciences · 2025Review
- Article
- Neuronal polyunsaturated fatty acids are protective in ALS/FTD.Nature neuroscience · 2025Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
32 authors at 8 institutions in 3 countries.
Bhuvaneish T SelvarajMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Matthew R LiveseyEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Chen ZhaoMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Jenna M GregoryEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Owain T JamesEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Elaine M ClearyMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Amit K ChouhanEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Angus B GaneMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Emma M PerkinsEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Owen DandoCentre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.ORCID http://orcid.org/0000-0002-6269-6408
Simon G LillicoThe Roslin Institute and R(D)SVS, University of Edinburgh, Edinburgh, EH25 9RG, UK.
Youn-Bok LeeMaurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 8AF, UK.
Agnes L NishimuraMaurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 8AF, UK.
Urjana PoreciGlobal Biomarker and Drug Discovery, Biogen, Cambridge, MA, 02142, USA.
Sai ThankamonyGlobal Biomarker and Drug Discovery, Biogen, Cambridge, MA, 02142, USA.
Meryll PrayGlobal Biomarker and Drug Discovery, Biogen, Cambridge, MA, 02142, USA.
Navneet A VasisthaMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Dario MagnaniMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Shyamanga BorooahMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Karen BurrMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
David StoryMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Alexander McCampbellNeurology Research, Biogen, Cambridge, MA, 02142, USA.
Christopher E ShawMaurice Wohl Clinical Neuroscience Institute, King's College London, London, SE5 8AF, UK.
Peter C KindCentre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Timothy J AitmanMRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
C Bruce A WhitelawThe Roslin Institute and R(D)SVS, University of Edinburgh, Edinburgh, EH25 9RG, UK.
Ian WilmutMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK.
Colin SmithEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Gareth B MilesEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
Giles E HardinghamEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.
David J A WyllieEuan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK. david.j.a.wyllie@ed.ac.uk.
Siddharthan ChandranMRC Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, EH16 4UU, UK. siddharthan.chandran@ed.ac.uk.
MRC Centre for Regenerative Medicine · GBUniversity of Edinburgh · GBBiogen (United States) · USInstitute for Stem Cell Biology and Regenerative Medicine · INKing's College London · GBRoslin Institute · GBUniversity of St Andrews · GBInstitute of Genetics and Cancer · GB
Funding
Biotechnology and Biological Sciences Research Council BBS/E/D/05251442Medical Research Council G0900688Medical Research Council G0902044Medical Research Council MC_G1000733Medical Research Council MR/K001744/1Medical Research Council MR/K014137/1Medical Research Council MR/L016400/1Medical Research Council MR/L021803/1Medical Research Council MR/L023784/1Medical Research Council MR/N005902/1Medical Research Council MR/N013255/1Medical Research Council MR/P006213/1Motor Neurone Disease Association MILES/OCT14/878-792Motor Neurone Disease Association SHAW/APR15/970-797Motor Neurone Disease Association SHAW/NOV14/985-797Parkinson's UK J-0901Wellcome Trust
Abstract
Mutations in C9ORF72 are the most common cause of familial amyotrophic lateral sclerosis (ALS). Here, through a combination of RNA-Seq and electrophysiological studies on induced pluripotent stem cell (iPSC)-derived motor neurons (MNs), we show that increased expression of GluA1 AMPA receptor (AMPAR) subunit occurs in MNs with C9ORF72 mutations that leads to increased Ca
Indexed as
Amyotrophic Lateral SclerosisC9orf72 ProteinCalciumCRISPR-Cas SystemsDNA Repeat ExpansionGene TargetingHumansMotor NeuronsReceptors, AMPASpinal CordC9orf72 ProteinC9orf72 protein, humanCalciumReceptors, AMPA
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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.