Cited by 334Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative DiseasesHereditary Neurological Disorders

The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

Ciura, Sorana, Lattante, Serena, Le Ber, Isabelle, Latouche, Morwena, Tostivint, Hervé, Brice, Alexis, Kabashi, Edor·2013·Annals of Neurology

DOI 10.1002/ana.23946

Open this paper in CoChat — free account

Abstract

Objective: To define the role that repeat expansions of a GGGGCC hexanucleotide sequence of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). A genetic model for ALS was developed to determine whether loss of function of the zebrafish orthologue of C9orf72 (zC9orf72) leads to abnormalities in neuronal development. Methods: C9orf72 mRNA levels were quantified in brain and lymphoblasts derived from FTLD and ALS/FTLD patients and in zebrafish. Knockdown of the zC9orf72 was performed using 2 specific antisense morpholino oligonucleotides to block transcription. Quantifications of spontaneous swimming and tactile escape response, as well as measurements of axonal projections from the spinal cord, were performed. Results: Significantly decreased expression of C9orf72 transcripts in brain and lymphoblasts was found in sporadic FTLD and ALS/FTLD patients with normal‐size or expanded hexanucleotide repeats. The zC9orf72 is selectively expressed in the developing nervous system at developmental stages. Loss of function of the zC9orf72 transcripts causes both behavioral and cellular deficits related to locomotion without major morphological abnormalities. These deficits were rescued upon overexpression of human C9orf72 mRNA transcripts. Interpretation: Our results indicate C9orf72 haploinsufficiency could be a contributing factor in the spectrum of ALS/FTLD neurodegenerative disorders. Loss of function of the zebrafish orthologue of zC9orf72 expression in zebrafish is associated with axonal degeneration of motor neurons that can be rescued by expressing human C9orf72 mRNA, highlighting the specificity of the induced phenotype. These results reveal a pathogenic consequence of decreased C9orf72 levels, supporting a loss of function mechanism of disease. Ann Neurol 2013;74:180–187

Integrity signals

Registry

Crossref · 10.1002/ana.23946

Cites

31 of 31 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
High-resolution in situ hybridization to whole-mount zebrafish embryos
Thisse, C., & Thisse, B. (2007) · Nature Protocols · doi:10.1038/nprot.2007.514 · Cited by 2,587
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70043-1 · Cited by 1,210
Self-citation
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Ash, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T. R., Lin, W.-L., DeJesus‐Hernandez, M., van Blitterswijk, M., Jansen‐West, K. R., Paul, J. W., Rademakers, R., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.004 · Cited by 1,079
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Mackenzie, I. R., Rademakers, R., & Neumann, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70195-2 · Cited by 1,012
Prevalence and patterns of cognitive impairment in sporadic ALS
Ringholz, G. M., Appel, S. H., Bradshaw, M. R., Cooke, N., Mosnik, D. M., & Schulz, P. E. (2005) · Neurology · doi:10.1212/01.wnl.0000172911.39167.b6 · Cited by 843

Flagged first, then by citations

Show all 31 references

Sorted by citations

Items 201–300 of 334

Epigenetic regulation
Klein, C. J., & Benarroch, E. E. (2014) · Neurology · doi:10.1212/wnl.0000000000000440 · Cited by 20
C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle
Türk, M., Haaker, G., Winter, L., Just, W., Nickel, F. T., Linker, R. A., Chevessier, F., & Schröder, R. (2014) · Muscle & Nerve · doi:10.1002/mus.24283 · Cited by 18
Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation inC9orf72
Ishiura, H., & Tsuji, S. (2015) · Journal of Neurogenetics · doi:10.3109/01677063.2015.1085980 · Cited by 19
Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis
Liu, Y., Tsai, P.-Y., & Chern, Y. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00126 · Cited by 17
Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries
Castro, A. F., Loureiro, J. R., Bessa, J., & Silveira, I. (2020) · Genes · doi:10.3390/genes11121418 · Cited by 18
Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis
Russell, K. L., Downie, J. M., Gibson, S. B., Tsetsou, S., Keefe, M. D., Duran, J. A., Figueroa, K. P., Bromberg, M. B., Murtaugh, L. C., Bonkowsky, J. L., et al. (2021) · Neurology · doi:10.1212/wnl.0000000000012285 · Cited by 19
Simple animal models for amyotrophic lateral sclerosis drug discovery
Patten, S. A., Parker, J. A., Wen, X., & Drapeau, P. (2016) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2016.1196183 · Cited by 20
Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes
Wang, X., Hao, L., Saur, T., Joyal, K. G., Zhao, Y. Y., Zhai, D., Li, J., Pribadi, M., Coppola, G., Cohen, B. M., et al. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2016.00113 · Cited by 20
C9orf72; abnormal RNA expression is the key
Heutink, P., Jansen, I. E., & Lynes, E. M. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.05.020 · Cited by 17
Potential new complication in drug therapy development for amyotrophic lateral sclerosis
Garbuzova-Davis, S. N., Thomson, A., Kurien, C., Shytle, R. D., & Sanberg, P. R. (2016) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2016.1207530 · Cited by 16
Exploring the alternative: Fish, flies and worms as preclinical models for ALS
Braems, E., Tziortzouda, P., & Bosch, L. V. D. (2021) · Neuroscience Letters · doi:10.1016/j.neulet.2021.136041 · Cited by 20
BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model
Quezada, E. R., Cappelli, C., Díaz, I. D. P., Jury, N., Wightman, N., Brown, R. H., Montecino, M. A., & van Zundert, B. (2021) · Clinical Epigenetics · doi:10.1186/s13148-021-01039-z · Cited by 17
In vivo Validation of Bimolecular Fluorescence Complementation (BiFC) to Investigate Aggregate Formation in Amyotrophic Lateral Sclerosis (ALS)
Don, E. K., Maschirow, A., Radford, R. A. W., Scherer, N. M., Vidal-Itriago, A., Hogan, A. L., Maurel, C., Formella, I., Stoddart, J. J., Hall, T. E., et al. (2021) · Molecular Neurobiology · doi:10.1007/s12035-020-02238-0 · Cited by 16
Small molecule inhibition of PIKFYVE kinase rescues gain- and loss-of-function C9ORF72 ALS/FTD disease processes in vivo
Staats, K. A., Seah, C., Sahimi, A., Wang, Y., Koutsodendris, N., Lin, S., Kim, D., Chang, W.-H., Gray, K. A., Shi, Y., et al. (2019) · doi:10.1101/685800 · Cited by 16
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review
Yuan, L., Yang, Y., Guo, Y., & Deng, H. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.05.008 · Cited by 18
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights
Luan, T., Li, Q., Huang, Z., Feng, Y., Xu, D., Zhou, Y., Hu, Y., & Wang, T. (2024) · Neuroscience Bulletin · doi:10.1007/s12264-024-01267-2 · Cited by 15
Dipeptide repeat derived from C9orf72 hexanucleotide expansions forms amyloids or natively unfolded structures in vitro
Brasseur, L., Coens, A., Waeytens, J., Melki, R., & Bousset, L. (2020) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2020.03.108 · Cited by 16
Modelling C9orf72-Related Amyotrophic Lateral Sclerosis in Zebrafish
Fortier, G., Butti, Z., & Patten, S. A. (2020) · Biomedicines · doi:10.3390/biomedicines8100440 · Cited by 15
Review: Modelling the pathology and behaviour of frontotemporal dementia
Solomon, D. A., Mitchell, J. C., Salcher-Konrad, M.-T., Vance, C. A., & Mizielinska, S. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12536 · Cited by 16
Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture
Nörpel, J., Cavadini, S., Schenk, A. D., Graff-Meyer, A., Heß, D., Seebacher, J., Chao, J. A., & Bhaskar, V. (2021) · PLoS Biology · doi:10.1371/journal.pbio.3001344 · Cited by 16
Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment
Bonham, L. W., Geier, E. G., Sirkis, D. W., Leong, J. K., Ramos, E. M., Wang, Q., Karydas, A., Lee, S. E., Sturm, V. E., Sawyer, R. P., et al. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.1448-22.2022 · Cited by 15
Aberrant Rna Homeostasis in Amyotrophic Lateral Sclerosis: Potential for New Therapeutic targets?
Donnelly, C. J., Grima, J. C., & Sattler, R. (2014) · Neurodegenerative Disease Management · doi:10.2217/nmt.14.36 · Cited by 15
CRISPR-Cas9 targeted deletion of the C9orf72 repeat expansion mutation corrects cellular phenotypes in patient-derived iPS cellsPreprint
Pribadi, M., Yang, Z., Kim, T. S., Swartz, E. W., Huang, A., Chen, J., Dokuru, D. R., Baek, J., Gao, F., Fua, A., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/051193 · Cited by 15
Promising animal models for amyotrophic lateral sclerosis drug discovery: a comprehensive update
Lescouzères, L., & Patten, S. A. (2024) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2024.2387791 · Cited by 16
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
Quelle‐Regaldie, A., Folgueira, M., Yáñez, J., Sobrido‐Cameán, D., Alba‐González, A., Barreiro‐Iglesias, A., Sobrido, M. J., & Sanchez, L. E. (2022) · Biomedicines · doi:10.3390/biomedicines10081814 · Cited by 13
Amyotrophic lateral sclerosis
Peters, O. M., & Brown, R. H. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00026-5 · Cited by 12
Multifaceted role of SMCR8 as autophagy regulator
Jung, J., & Behrends, C. (2017) · Small GTPases · doi:10.1080/21541248.2017.1346553 · Cited by 13
The progress inC9orf72research: ALS/FTD pathogenesis, functions and structure
Jiang, L., Zhang, T., Lu, K., & Qi, S. (2021) · Small GTPases · doi:10.1080/21541248.2021.1892443 · Cited by 13
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
Lopez-Herdoiza, M.-B., Bauché, S., Wilmet, B., Duigou, C. L., Roussel, D., Frah, M., Béal, J., Devely, G., Boluda, S., Frick, P., et al. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1155929 · Cited by 13
Self-citation
The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs
Robberecht, W., & Eykens, C. (2015) · Advances in Genomics and Genetics · doi:10.2147/agg.s57397 · Cited by 14
The catalytic activity and secretion of zebrafish RNases are essential for their in vivo function in motor neurons and vasculature
Ferguson, R., Holloway, D. E., Chandrasekhar, A., Acharya, K. R., & Subramanian, V. (2019) · Scientific Reports · doi:10.1038/s41598-018-37140-2 · Cited by 12
ALS-associated genes display CNS expression in the developing zebrafish
Laboissonniere, L. A., Smith, C. L., Mesenbrink-Sainz, J., Chowdhury, R., Burney, A., Lang, M., Sierra, M., Stark, A., Maldonado-Casalduc, G., Muller, M., et al. (2018) · Gene Expression Patterns · doi:10.1016/j.gep.2018.08.003 · Cited by 11
Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain
Castro, V. L., Reyes, J. F., Reyes‐Nava, N. G., Paz, D., & Quintana, A. M. (2020) · BMC Neuroscience · doi:10.1186/s12868-020-00577-1 · Cited by 11
Amyotrophic Lateral Sclerosis Risk Genes and Suppressor
Ponnusamy, K., Haider, S., Kumar, R., Malik, M. Z., Singh, M., Rachana, R., & Mani, S. (2022) · Current Gene Therapy · doi:10.2174/1566523223666221108113330 · Cited by 11
Mitochondrial Dysfunction in Repeat Expansion Diseases
Giménez-Bejarano, A., Alegre-Cortés, E., Yakhine-Diop, S. M. S., Gómez‐Suaga, P., & Fuentes, J. M. (2023) · Antioxidants · doi:10.3390/antiox12081593 · Cited by 12
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision
Sachdev, A., Gill, K., Sckaff, M., Birk, A. M., Arogundade, O. A., Brown, K. A., Chouhan, R. S., Issagholian-Lewin, P. O., Patel, E. M., Watry, H. L., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2307814121 · Cited by 12
Animal Models for the Study of Human Neurodegenerative Diseases
Colpo, G. D., Ribeiro, F. M., Rocha, N. P., & Teixeira, A. L. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809468-6.00042-5 · Cited by 12
Existing and Emerging Metabolomic Tools for ALS Research
Germeys, C., Vandoorne, T., Bercier, V., & Bosch, L. V. D. (2019) · Genes · doi:10.3390/genes10121011 · Cited by 12
Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia
Gagliardi, D., Costamagna, G., Taiana, M. M., Andreoli, L., Biella, F., Bersani, M., Bresolin, N., Comi, G. P., & Corti, S. P. (2020) · Ageing Research Reviews · doi:10.1016/j.arr.2020.101172 · Cited by 11
Targeting Gene C9orf72 Pathogenesis for Amyotrophic Lateral Sclerosis
Chong, Z. Z., & Souayah, N. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094276 · Cited by 11
Oligonucleotide-Based Therapy for FTD/ALS Caused by theC9orf72Repeat Expansion: A Perspective
Fernandes, S., Douglas, A. G. L., Varela, M. A., Wood, M. J. A., & Aoki, Y. (2013) · Journal of Nucleic Acids · doi:10.1155/2013/208245 · Cited by 13
Functional Characterization of Neurofilament Light Splicing and Misbalance in Zebrafish
Demy, D. L., Campanari, M., Munoz‐Ruiz, R., Durham, H. D., Gentil, B. J., & Kabashi, E. (2020) · Cells · doi:10.3390/cells9051238 · Cited by 10
Self-citation
Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases
Lescouzères, L., Bordignon, B., & Bomont, P. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.956582 · Cited by 10
RNA-binding proteins as a common ground for neurodegeneration and inflammation in amyotrophic lateral sclerosis and multiple sclerosis
Acosta-Galeana, I., Hernandez-Martinez, R., Reyes-Cruz, T., Chiquete, E., & Buendia, J. D. J. A. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2023.1193636 · Cited by 10
Molecular Mechanisms of Amyotrophic Lateral Sclerosis
Collins, M. A., & Bowser, R. P. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802257-3.00004-3 · Cited by 10
The Emerging Role of the Major Histocompatibility Complex Class I in Amyotrophic Lateral Sclerosis
Chiarotto, G. B., Nardo, G., Trolese, M. C., França, M. C., Bendotti, C., & de Oliveira, A. L. R. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18112298 · Cited by 10
Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72
Kitano, S., Kino, Y., Yamamoto, Y., Takitani, M., Miyoshi, J., Ishida, T., Saito, Y., Arima, K., & Satoh, J. (2015) · Journal of Central Nervous System Disease · doi:10.4137/jcnsd.s24317 · Cited by 10
The 5’-Untranslated Region of the C9orf72 mRNA Exhibits a Phylogenetic Alignment to the Cis-Aconitase Iron-Responsive Element; Novel Therapies for Amytrophic Lateral Sclerosis
Lu, M., Rajanala, S., Mikkilineni, S., Cahill, C. M., Brown, R., Berry, J. D., & Rogers, J. T. (2016) · Neuroscience & Medicine · doi:10.4236/nm.2016.71003 · Cited by 9
Toxicity in ALS: TDP-43 modifiers and C9orf72
Martin, J. L. S., Wang, L., & Kaprielian, Z. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.134621 · Cited by 10
Proteostasis deregulation as a driver of C9ORF72 pathogenesis
Torres, P., Cabral‐Miranda, F., Gonzalez‐Teuber, V., & Hetz, C. A. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15529 · Cited by 9
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells
Yanovsky‐Dagan, S. (2015) · World Journal of Stem Cells · doi:10.4252/wjsc.v7.i5.823 · Cited by 10
Refinement of the novel tank diving test: toward standardized and robust analysis of anxiety-like behavior in zebrafish
Shinkai, T., Nakai, M., Takeshita, U., Morita, K., & Shimada, Y. (2025) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2025.1624277 · Cited by 8
Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion
Ber, I. L. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.04.004 · Cited by 8
Genetic and Molecular Aspects of Frontotemporal Lobar Degeneration
Haapasalo, A., & Remes, A. M. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0063-5 · Cited by 9
Diving deep: zebrafish models in motor neuron degeneration research
Garg, V., & Geurten, B. R. H. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1424025 · Cited by 8
Deciphering genetic interactions between ALS genes usingC. elegans
Therrien, M., & Parker, J. A. (2014) · Worm · doi:10.4161/worm.29047 · Cited by 7
Formation of RNA G-wires by G4C2 repeats associated with ALS and FTD
Bose, K., Maity, A., Ngo, K. H., Vandana, J. J., Shneider, N. A., & Phan, A. T. (2022) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2022.03.162 · Cited by 5
Motoneuron Disease: Basic Science
Ilieva, H. S., & Maragakis, N. J. (2017) · Advances in neurobiology · doi:10.1007/978-3-319-57193-5_6 · Cited by 6
Autophagy-Lysosome Dysfunction in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
Sullivan, P. M., Zhou, X., & Hu, F. (2017) · InTech eBooks · doi:10.5772/intechopen.69371 · Cited by 6
Realizing the gains and losses in C9ORF72 ALS/FTD
Lutz, C. M. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0622-x · Cited by 7
Sephin1 reduces TDP-43 cytoplasmic mislocalization and improves motor neuron survival in ALS models
Abgueguen, E., Tortarolo, M., Rouvière, L., Marcuzzo, S., Camporeale, L., Henriques, A., Pasetto, L., Culley, G. R., Bonetto, V., Marian, A., et al. (2025) · Life Science Alliance · doi:10.26508/lsa.202403195 · Cited by 6
Self-citation
Ethylene thiourea exposure induces neurobehavioral toxicity in zebrafish by disrupting axon growth and neuromuscular junctions
Wang, J., Yu, Z., Wang, Y., Chen, Y., Xiao, L., Zong, Y., Feng, Q., Peng, L., Zhang, H., & Liu, C. (2022) · Journal of Environmental Sciences · doi:10.1016/j.jes.2022.11.012 · Cited by 5
Loss of C9orf72 function leads to autoimmunity
Sakkas, L. I., Bogdanos, D. P., & Kousvelari, E. E. (2017) · Annals of Translational Medicine · doi:10.21037/atm.2017.01.33 · Cited by 6
Exosomal Transport and Progression of Neurodegeneration in Amyotrophic Lateral Sclerosis
Mv, I., Олеговна, Ч. Е., Belugin, B. V., Тутыхина, И. Л., Dolzhikova, I. V., Владимировна, З. И., Васильев, А. В., & Zakharova, M. N. (2019) · Neurochemical Journal · doi:10.1134/s1819712419030085 · Cited by 5
Genetics of Frontotemporal Dementia
Heetveld, S., Rizzu, P., & Heutink, P. (2015) · Springer eBooks · doi:10.1007/978-3-319-17223-1_5 · Cited by 5
An Epigenetic Spin to ALS and FTD
Ebbert, M., Lank, R. J., & Belzil, V. (2018) · Advances in neurobiology · doi:10.1007/978-3-319-89689-2_1 · Cited by 5
Frontotemporal dementia
Wauters, E., Sleegers, K., Cruts, M., & Broeckhoven, C. V. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-805120-7.00009-9 · Cited by 6
Amyotrophic Lateral Sclerosis
Peters, O. M., & Brown, R. H. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-398270-4.00018-5 · Cited by 5
References
Shaw, C. A. (2017) · Wiley eBooks · doi:10.1002/9781118634523.refs · Cited by 9
Pathology and pathophysiology
Dickerson, B. C. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781316091586.016 · Cited by 4
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
(2021) · Frontiers research topics · doi:10.3389/978-2-88966-904-2 · Cited by 3
Two therapeutic CRISPR/Cas9 gene editing approaches revert FTD/ALS cellular pathology caused by a C9orf72 repeat expansion mutation in patient derived cellsPreprint
Sckaff, M., Gill, K., Sachdev, A., Birk, A. M., Arogundade, O. A., Watry, H., Keough, K. C., Tsai, Y.-C., Ziegle, J. S., Conklin, B. R., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.05.21.492887 · Cited by 4
Organ-specific LPS-induced inflammatory gene expression in adult Zebrafish
Ma, Y., Fedorov, A. V., Кондратов, К. А., Knyazeva, A., Vasyutina, M. L., & Головкин, А. С. (2021) · Medical Immunology (Russia) · doi:10.15789/1563-0625-osl-2357 · Cited by 3
Oligonucleotide Therapies: The Future of Amyotrophic Lateral Sclerosis Treatment?
Aoki, Y., Douglas, A. G. L., & Wood, M. J. A. (2015) · Neurodegenerative Disease Management · doi:10.2217/nmt.15.4 · Cited by 3
Animal models of dementia
Roberson, E. D., & Kao, A. W. (2016) · Cambridge University Press eBooks · doi:10.1017/9781139924771.007 · Cited by 3
C9ORF72 Is Pivotal to Maintain a Proper Protein Homeostasis in Mouse Skeletal Muscle
Sironi, F. M., Parlanti, P., Margotta, C., Cassarà, J., Bonetto, V., Bendotti, C., Tortarolo, M., & Cappello, V. (2025) · Cells · doi:10.3390/cells14221765 · Cited by 2
Loss of C9orf72 impacts the peripheral neuromuscular system via immune dysregulation and accelerates the progression of amyotrophic lateral sclerosis in SOD-1 mutant mice
Sironi, F. M., Tortarolo, M., Mazzucchi, S., Camporeale, L., Freschi, M., Arcadipane, E., Giovanetti, G. F., Kurosaki, M., Terao, M., Parlanti, P., et al. (2025) · Journal of Neuroinflammation · doi:10.1186/s12974-025-03597-y · Cited by 2
C9orf72 in myeloid cells prevents an inflammatory response to microbial glycogen
McCourt, B. T., Lemr, K., Chakrabarti, S., Woidke, E., Ramaiah, S., Singh, V., Sangwan, N., Brown, J. M., Cominelli, F., Rodriguez‐Palacios, A., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2025.116906 · Cited by 3
PAICS mediates DNA damage and cerebellar neuronal loss in C9orf72 amyotrophic lateral sclerosis
Singh, J., Lescouzères, L., Zaouter, C., Chaineau, M., Haghi, G., Durcan, T. M., & Patten, S. A. (2026) · Brain · doi:10.1093/brain/awag092 · Cited by 2
C9ORF72 Deficiency Results in Neurodegeneration in the Zebrafish Retina
Jaroszynska, N., Salzinger, A., Tsarouchas, T. M., Becker, C. G., Becker, T., Lyons, D. A., MacDonald, R. B., & Keatinge, M. (2024) · Journal of Neuroscience · doi:10.1523/jneurosci.2128-23.2024 · Cited by 3
Frontotemporal Dementia
Arrant, A. E., & Roberson, E. D. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801942-9.00006-9 · Cited by 3
Evaluation of methylation status of the 5’-promoter region of C9orf72 gene in Russian patients with neurodegenerative diseases
Shpilyukova, Y. A., Fedotova, E. Y., Погода, Т. В., Abramycheva, N. Y., Vetchinova, A. S., Zakharova, M. N., & Illarioshkin, S. N. (2018) · Neuromuscular Diseases · doi:10.17650/2222-8721-2018-8-2-33-41 · Cited by 2
Biology and research applications
Bräutigam, L., & Filipek‐Górniok, B. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821099-4.00013-4 · Cited by 2
Amyotrophic lateral sclerosis
Lin, Z., Ibrahim, A. N., Brown, R. H., & Sreedharan, J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00034-0 · Cited by 2
Mislocalization, aggregation formation and defect in proteolysis in ALS
Tsubota, A., Ichijo, H., & Homma, K. (2016) · AIMS molecular science · doi:10.3934/molsci.2016.2.246 · Cited by 2
Making sense of the antisense transcripts in C9FTD/ALS
Todd, P. K. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1201-y · Cited by 2
Zebrafish C9orf72 loss-of-function models of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Rounding, N. (2018) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York) · Cited by 2
Novel small molecule TRVA242 targets neuromuscular junction in amyotrophic lateral sclerosis
Bose, P. (2019) · Neural Regeneration Research · doi:10.4103/1673-5374.270309 · Cited by 1
Genetics of ALS
McLaughlin, R. L., Kenna, K. P., & Hardiman, O. M. (2015) · Springer eBooks · doi:10.1007/978-3-319-17223-1_17 · Cited by 1
Chromatin Landscape and Epigenetic Signatures in Neurological Disorders
Milani, P., & Fraenkel, E. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801899-6.00026-7 · Cited by 1
Exploring the utility of zebrafish models for understanding neuropsychiatric disorders and advancement of drug discovery
Choudhary, P., Bansal, S., Meena, P., Verma, R., Komal, K., & Verma, R. (2024) · Journal of Integrated Science and Technology · doi:10.62110/sciencein.jist.2025.v13.1051 · Cited by 1
Antisense-Oligonukleotide I
Wurster, C. D., Ludolph, A. C., Lehmann, D., & Graf, H. (2018) · Nervenheilkunde · doi:10.1055/s-0038-1675700 · Cited by 1
C9ORF72 deficiency results in degeneration of the zebrafish retina in vivoPreprint
Jaroszynska, N., Salzinger, A., Tsarouchas, T. M., Becker, C. G., Becker, T., Lyons, D. A., MacDonald, R. B., & Keatinge, M. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.19.563041 · Cited by 1
The Role of Regulatory T Cells and Microglia in Amyotrophic Lateral Sclerosis
Beers, D. R., Zhao, W., Hooten, K. G., & Appel, S. H. (2015) · doi:10.1002/9781118732748.ch15
Epigenetic Modifications of the C9Orf72 Gene: A Potential Biomarker of Disease?
Belzil, V., & Petrucelli, L. (2014) · Future Neurology · doi:10.2217/fnl.14.5
The role of the corticomotorneurons in pathogenesis of amyotrophic lateral sclerosis
Menon, P. (2014) · The Sydney eScholarship Repository (The University of Sydney)
Neuromuscular transmission modulation by A2A adenosine receptors in the SOD1G93A mouse model of amyotrophic lateral sclerosis
Nascimento, F. (2013) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs
Leuven, K. (2015)
Pathophysiologyand animal models of frontotemporal dementia
Warmus, B. A., & Roberson, E. D. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781316091586.018
Development of a cellular model for C9ORF72-related Amyotrophic Lateral Sclerosis
Stopford, M. J. (2016) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)

Authors: Ciura, S., Lattante, S., Le Ber, I., Latouche, M., Tostivint, H., Brice, A., & Kabashi, E.
Affiliations: Centre National de la Recherche Scientifique (FR)
Research Center of the Institute for Brain and Spinal Cord CRICM National Institute of Health and Medical Research ‐ Inserm UMR_S975 National Center for Scientific Reseach CNRS UMR_7225 Pierre and Marie Curie University UPMC Paris 6 F‐75013 Paris France
Corresponding author: Kabashi, Edor
ORCID: Ciura, Sorana
Lattante, Serena
Latouche, Morwena
Tostivint, Hervé
Brice, Alexis
Kabashi, Edor
Venue: Annals of Neurology
Publisher: Wiley
Published: 2013-08
Volume: 74
Issue: 2
Pages: 180-187
ISSN: 0364-5134 (ISSN-L)
1531-8249
DOI: 10.1002/ana.23946
OpenAlex: W2158949580
Cited by: 333
References: 31
Citations by year: 2026: 7 · 2025: 8 · 2024: 11 · 2023: 14 · 2022: 16 · 2021: 29 · 2020: 31 · 2019: 23 · 2018: 39 · 2017: 31 · 2016: 42 · 2015: 32 · 2014: 36 · 2013: 14
FWCI: 26.25
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 54 d)
Locations: Annals of Neurology (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
AIRUS (submittedVersion)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: C9orf72, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, GGGGCC repeat expansion, haploinsufficiency, zebrafish model, motor impairment, axonal degeneration, motor neurons, locomotor activity, morpholino knockdown, neurodegeneration
MeSH terms: C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, Behavior, Animal, Disease Models, Animal, Humans, Lymphocytes, Motor Activity, Proteins, Zebrafish, Zebrafish Proteins, Frontotemporal Lobar Degeneration

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks