Cited by 363Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis ResearchGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 280 of the 286 references it cites were found in a registry or an index.

Molecular mechanisms underlying nucleotide repeat expansion disorders

Open access

Malik, Indranil, Kelley, Chase P., Wang, Eric T., Todd, Peter K.·2021·Nature Reviews Molecular Cell Biology

DOI 10.1038/s41580-021-00382-6PMC PMC9612635

Open this paper in CoChat — free account

Abstract

The human genome contains over one million short tandem repeats. Expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (C9orf72), polyglutamine-associated ataxias and Huntington disease, myotonic dystrophy, and intellectual disability disorders such as Fragile X syndrome. In this Review, we discuss the four major mechanisms by which expansion of short tandem repeats causes disease: loss of function through transcription repression, RNA-mediated gain of function through gelation and sequestration of RNA-binding proteins, gain of function of canonically translated repeat-harbouring proteins, and repeat-associated non-AUG translation of toxic repeat peptides. Somatic repeat instability amplifies these mechanisms and influences both disease age of onset and tissue specificity of pathogenic features. We focus on the crosstalk between these disease mechanisms, and argue that they often synergize to drive pathogenesis. We also discuss the emerging native functions of repeat elements and how their dynamics might contribute to disease at a larger scale than currently appreciated. Lastly, we propose that lynchpins tying these disease mechanisms and native functions together offer promising therapeutic targets with potential shared applications across this class of human disorders.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/s41580-021-00382-6

Cites

280 of 280 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Regulated Translation Initiation Controls Stress-Induced Gene Expression in Mammalian Cells
Harding, H. P., Novoa, I., Zhang, Y., Zeng, H., Wek, R. C., Schapira, M., & Ron, D. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00108-8 · Cited by 3,344
An Integrated Stress Response Regulates Amino Acid Metabolism and Resistance to Oxidative Stress
Harding, H. P., Zhang, Y., Zeng, H., Novoa, I., Lu, P. D., Calfon, M. A., Sadri, N., Yun, C., Popko, B., Paules, R. S., et al. (2003) · Molecular Cell · doi:10.1016/s1097-2765(03)00105-9 · Cited by 3,336
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81369-0 · Cited by 3,073
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786
The mechanism of eukaryotic translation initiation and principles of its regulation
Jackson, R. J., Hellen, C. U. T., & Pestova, T. V. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2838 · Cited by 2,759
The integrated stress response
Pakos‐Zebrucka, K., Koryga, I., Mnich, K., Ljujic, M., Samali, A., & Gorman, A. M. (2016) · The EMBO Reports · doi:10.15252/embr.201642195 · Cited by 2,659
Phase transitions in the assembly of multivalent signalling proteins
Li, P., Banjade, S., Cheng, H., Kim, S., Chen, B., Guo, L., Llaguno, M. C., Hollingsworth, J. V., King, D., Banani, S. F., et al. (2012) · Nature · doi:10.1038/nature10879 · Cited by 2,565

Show all 286 references

Research works printed but not linked: 1

Wells, R. D. & Ashizawa, T. Genetic Instabilities and Neurological Diseases. (Elsevier, 2006).

Sorted by citations

Items 201–300 of 360

Core biological principles and tools stemming from basic Arabidopsis research
Strader, L. C., Edwards, D., Sureshkumar, S., Balasubramanian, S., Chen, T., Dong, X., Antunes, M. S., Zebluim, L., Chaisupa, P., & Wright, R. C. (2025) · The Plant Cell · doi:10.1093/plcell/koaf141 · Cited by 3
Nuclear body assembly by a viral repeat RNA promotes Kaposi’s sarcoma-associated herpesvirus gene expression
Kleer, M., Mulloy, R. P., Bui-Marinos, M. P., Johnston, M. J. G., Khan, M. F., Schriemer, D. C., & Corcoran, J. A. (2026) · Molecular Cell · doi:10.1016/j.molcel.2026.08.022 · Cited by 3
A peptide inhibitor that rescues polyglutamine-induced synaptic defects and cell death through suppressing RNA and protein toxicities
Peng, S. I., Leong, L. I., Sun, J. K., Chen, Z. S., Chow, H., & Chan, H. Y. E. (2022) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2022.06.004 · Cited by 3
Recent topics of neuronal intranuclear inclusion disease ( NIID )
Sone, J. (2022) · Neurology and Clinical Neuroscience · doi:10.1111/ncn3.12675 · Cited by 3
Synthesis and cloning of long repeat sequences using single-stranded circular DNA
Bhuiyan, A., & Asakawa, S. (2023) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2023.1115159 · Cited by 3
Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine
Li, M. M., Awasthi, S., Ghosh, S. K., Bisht, D., Coban‐Akdemir, Z., Sheynkman, G., Sahni, N., & Yi, S. S. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3163-8_24 · Cited by 3
Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1
Louis, J. M., Frias, J. A., Schroader, J. H., Jones, L. A., Davey, E. E., Lennon, C. D., Chacko, J., Cleary, J. D., Berglund, J. A., & Reddy, K. (2024) · Human Molecular Genetics · doi:10.1093/hmg/ddae125 · Cited by 3
Improved understanding of sequence polymorphisms at 42 Y chromosome short tandem repeats for the Chinese Han population
Miao, L., Liu, S., Pan, K.-P., Jiao, R.-L., Zhang, Q., Xu, T.-Y., Tong, S.-Y., Kang, K., Zhao, J., Zhang, C., et al. (2024) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2024.103181 · Cited by 3
RFC1 AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVASPreprint
Wang, Y., Wang, J., Yan, Z., Hou, J., Wan, L., Yi, J., Guo, P., & Han, D. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.06.552146 · Cited by 3
CAG repeat-selective compounds reduce abundance of expanded CAG RNAs in patient cell and murine models of SCAsPreprint
Shorrock, H. K., Aliyeva, A., Frias, J. A., DeMeo, V. A., Lennon, C. D., DeMeo, C. C., Mascorro, A. K., Shaughnessy, S., Mazdiyasni, H., Cleary, J. D., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.17.608349 · Cited by 3
Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches
Jung, S., & Richter, J. D. (2024) · RNA · doi:10.1261/rna.080270.124 · Cited by 2
Assessment of changes in synaptic density in the zQ175DN mouse model of Huntington’s disease: a [18F]SynVesT-1 study
Everix, L., Zajicek, F., Eetveldt, A. V., Liu, L., Bard, J., Staelens, S. G., & Bertoglio, D. (2025) · NeuroImage Clinical · doi:10.1016/j.nicl.2025.103800 · Cited by 2
A Live-Cell NanoBRET Assay to Monitor RNA–Protein Interactions and Their Inhibition by Small Molecules
Shan, J., Taghavi, A., Caine, E. A., Sekioka, R., Rajchin, V., Burke, J. M., Watkins, J. M., Childs‐Disney, J. L., & Disney, M. D. (2025) · ACS Central Science · doi:10.1021/acscentsci.5c00705 · Cited by 1
Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion disease
Xie, N., Pan, Y., Tong, H., Lin, Y., Jiang, Y., Wang, Z., Wan, J., Zhang, W., Wang, X., Sun, X., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-68385-5 · Cited by 5
Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective
Ni‐Chung, L., Lin, C., Chien, Y., & Hwu, W. (2026) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2026.01.021 · Cited by 2
The Hsp40 cochaperone DNAJC7 regulates polyglutamine aggregation and exhibits context-dependent effects on polyglycine aggregation
Ramani, B., Ehsani, K., & Kampmann, M. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.111292 · Cited by 2
The Tale of the Guanosine Tract in Repeat Expansion Disorders
Karati, S., Rawat, S., Kumari, A., Das, S., Shukla, S., & Kumar, A. (2026) · Molecular Neurobiology · doi:10.1007/s12035-026-05735-w · Cited by 2
FUS is an N 1- and N 6-methyladenosine-binding protein
Liang, X., Zhao, T., Dai, X., Sun, Y., Yuan, J. J., Afzalpurkar, S., Duong, C., Yu, A., Tang, F., He, X., et al. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag194 · Cited by 2
Stepwise transcription stalling by the anti-cancer drug Actinomycin D and insights into short tandem repeat transcription inhibition
Zhao, W., Zhu, L., Liu, Y., Deng, W., Yang, X., Ye, L., Lin, Z., Ding, K., Yang, X., Li, X., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-70612-y · Cited by 3
The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype–phenotype correlation in Myotonic dystrophy type 2 (DM2)
Centofanti, F., Visconti, V. V., D’Apice, M. R., Carlomagno, M., Maestri, S., Ciabini, D., Bengala, M., Marchionni, E., Frezza, E., Massa, R. F., et al. (2026) · Human Genomics · doi:10.1186/s40246-026-00954-7 · Cited by 2
Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Guha, S., Rajan‐Babu, I., Kesari, A., Garg, S., Rose, N. C., Seifert, B. A., & Reddi, H. V. (2026) · Genetics in Medicine · doi:10.1016/j.gim.2026.102520 · Cited by 2
Biochemical and structural biology aspects of liquid–liquid phase separation: an interplay between proteins and RNA
Ganser, L. R., Djaja, N. A., & Myong, S. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-823967-4.00014-2 · Cited by 2
Retinale OCT-Biomarker und neurodegenerative Erkrankungen des zentralen Nervensystems jenseits der Alzheimer-Krankheit
Hopf, S., Tüscher, O., & Schuster, A. K.-G. (2024) · Die Ophthalmologie · doi:10.1007/s00347-023-01974-7 · Cited by 2
Toward understanding the role of genomic repeat elements in neurodegenerative diseases
An, Z., Jiang, A., & Chen, J. (2024) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-23-01568 · Cited by 2
Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases
Zhang, Y., Liu, X., Li, Z., Li, H., Miao, Z., Wan, B., & Xu, X. (2024) · Molecular Neurobiology · doi:10.1007/s12035-024-04239-9 · Cited by 2
Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorder
Murayama, A., Nagaoka, U., Sugaya, K., Shimazaki, R., Miyamoto, K., Matsubara, S., Ogasawara, M., Iida, A., Nishino, I., & Takahashi, K. (2024) · Neuromuscular Disorders · doi:10.1016/j.nmd.2024.104465 · Cited by 2
Intersection of the fragile X-related disorders and the DNA damage response
Kumari, D., Grant-Bier, J., Kadyrov, F. A., & Usdin, K. (2024) · DNA repair · doi:10.1016/j.dnarep.2024.103785 · Cited by 2
Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs
Kamon, M., Wakatsuki, S., Nakamori, M., Takahashi, M. P., Mori‐Yoshimura, M., Komaki, H., & Araki, T. (2024) · Human Molecular Genetics · doi:10.1093/hmg/ddae186 · Cited by 2
Exploring the pleiotropic effects of lncRNA in different repeat expansion disorders
Das, S., Khandelwal, S., Shukla, S., & Kumar, A. (2025) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2025.168089 · Cited by 2
REV1 inhibition enhances trinucleotide repeat mutagenesis
Siegel, A., Almstead, D., Kothandaraman, N., Reich, J., Lamkin, E. N., Victor, J., Grover, A., Ikeh, K., Koval, H., Crompton, A., et al. (2025) · Open Biology · doi:10.1098/rsob.250234 · Cited by 2
The neuropathological mechanism on guanine-rich repeat expansion diseases
Yabuki, Y., & Shioda, N. (2022) · Folia Pharmacologica Japonica · doi:10.1254/fpj.22078 · Cited by 2
Subtyping monogenic disorders: Huntington disease
Sturchio, A., Duker, A. P., Muñoz-Sanjuán, I., & Espay, A. J. (2023) · Handbook of clinical neurology · doi:10.1016/b978-0-323-85555-6.00003-5 · Cited by 2
Enhancing Binding Affinity to CGG/CGG Triad: Optimizing Naphthyridine Carbamate Dimer Derivatives with Varied Linker Lengths
Shibata, T., Nakamachi, A., & Nakatani, K. (2024) · ChemMedChem · doi:10.1002/cmdc.202400351 · Cited by 2
Tissue-Specific Dynamics of TCF4 Triplet Repeat Instability Revealed by Optical Genome MappingPreprint
Zarouchlioti, C., Efthymiou, S., Fracchini, S., Dominik, N., Bhattacharyya, N., Liu, S., Costa, M. A., Szabó, A., Sadan, A. N., Jun, A. S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.27.587034 · Cited by 2
Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brainPreprint
Chen, Z., Hicks, A. R., Brenton, J., Grant‐Peters, M., Reynolds, R. H., Gustavsson, E. K., Rocca, C., Perez, G. R., Garza, R., García-Ruiz, S., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.03.631007 · Cited by 2
Small Molecules Targeting Repeat Sequences Causing Neurological Disorders
Das, B., Shibata, T., & Nakatani, K. (2023) · Springer eBooks · doi:10.1007/978-981-19-9776-1_68 · Cited by 1
DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases
Shi, Q., Dai, M., Ma, Y., Liu, J., Liu, X., & Wang, X. (2024) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzae068 · Cited by 1
Polyamines enhance repeat-associated non-AUG translation from CCUG repeats by stabilizing the tertiary structure of RNA
Oguro, A., Uemura, T., Machida, K., Kitajiri, K., Tajima, A., Furuchi, T., Kawai, G., & Imataka, H. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.108251 · Cited by 1
Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditionsPreprint
Tutak, K., Broniarek, I., Zieleziński, A., Niewiadomska, D., Skrzypczak, T., Baud, A., & Sobczak, K. (2024) · eLife · doi:10.7554/elife.98631.3 · Cited by 9
Selective association of short tandem repeats with DNA-binding domains and intrinsically disordered regions of transcription factors
Vidavski, M., Brodsky, S., Manadre, W., Jana, T., Mindel, V., Navon, Y., & Barkai, N. (2025) · Cell Systems · doi:10.1016/j.cels.2025.101349 · Cited by 1
Gene traffic mediated by transposable elements shaped the dynamic evolution of ancient sex chromosomes of varanid lizard
Zhu, Z., Dobry, J., Wapstra, E., Zhou, Q., & Ezaz, T. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.08.002 · Cited by 4
Uncovering RNA grammar in driving synthetic condensates
Xue, Z., Mukherjee, O., & You, M. (2025) · Trends in Chemistry · doi:10.1016/j.trechm.2025.09.005 · Cited by 1
Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease
Minakawa, E. N., Owari, K., Nogami, N., Nakatani, T., Koizumi, M., Kawanobe, A., Saga, Y., Kudo, M., Noguchi, S., Hanakawa, T., et al. (2025) · Disease Models & Mechanisms · doi:10.1242/dmm.052470 · Cited by 4
In Search of Novel Diagnostic Biomarkers for Psychoneurological and Neurodegenerative Diseases: Translation Factors DENR and eIF2D
Zamyatnina, K. A. (2025) · Biochemistry (Moscow) · doi:10.1134/s000629792560259x · Cited by 1
Multimodal spatial transcriptomics redefines cortical pathology in Huntington’s disease
Vazquez‐Sanchez, S., Arnold-García, O., Chillón-Marinas, C., Maimon, R., Cui, J., McNair, K., Dai, Y., Jiménez, N. M., Child, D. D., Thompson, L. M., et al. (2026) · Cell · doi:10.64898/2025.12.26.696622 · Cited by 1
TandemTwister: scalable genotyping and advanced visualization of tandem repeats
Raei, L. W. A., Ghareghani, M., Moeinzadeh, M.-H., & Vingron, M. (2026) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqag096 · Cited by 1
Amino acid repeat signatures underlying human-pathogen interactions
Singh, A. K., Rachote, N., Sharma, V., Agrawal, A., Kappagantula, K. S., Kadumuri, R. V., & Chavali, S. (2026) · iScience · doi:10.1016/j.isci.2026.115249 · Cited by 1
Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy
Li, C., Daw, J., Pittman, S. K., Maltby, C. J., Sakurai, H., Todd, P. K., & Weihl, C. C. (2026) · Acta Neuropathologica Communications · doi:10.1186/s40478-026-02272-4 · Cited by 1
Self-citation
Polyglutamine homorepeat regulates Runx2 condensation and cellular localization in a KPNA3-dependent manner
Weng, J. H., Xu, S. B., Lv, J. C., Li, Y. Y., Chen, H., Zhang, T. R., Liang, H., Chen, R. J., Chen, L., Chen, X., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.117205 · Cited by 1
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy
Tang, Z., Övünç, S. S., Iwase, R., Mehinovic, E., Thomas, S., Ulibarri, J., Li, Z., Baldridge, D., Cruchaga, C., Liu, M., et al. (2026) · Annals of Neurology · doi:10.1002/ana.78226 · Cited by 1
Self-citation
Chromatin and transcriptomic engineering in neurological disorders: Emerging human cellular models and translational approaches
Johnson, T. J., & Keung, A. J. (2026) · Current Opinion in Biomedical Engineering · doi:10.1016/j.cobme.2026.100667 · Cited by 1
Muscleblind-like proteins dimerize by forming disulfide bonds to regulate alternative splicing and pathogenic RNA foci formation
Knudson, L. A., Kosti, A., Hildebrandt, R. P., Jennings, E., Zhou, E. X., Moss, K. R., Shi, L., Nguyen, G. N., Janusz, A., Wang, E. T., et al. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag538 · Cited by 1
Self-citation
Dual Effect of RNA-like Polyelectrolytes on Stability and Dynamics of Biomolecular Condensates: A Tale of Competitive Short- and Long-Range Interactions
Sharma, D., Roy, S., & Hazra, M. K. (2026) · The Journal of Physical Chemistry B · doi:10.1021/acs.jpcb.6c00638 · Cited by 1
Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation
Wieland, C. M., Wright, S. E., Willey, S., Purwar, I., Grudzien, S., Krans, A., Laimon-Thomson, E. L., Asher, M. J., Isaacs, A. M., Garner, A. L., et al. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag880 · Cited by 1
Self-citation
Repeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2
Skariah, G., & Albin, R. L. (2021) · Movement Disorders · doi:10.1002/mds.28795 · Cited by 1
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
Fan, C., Chen, K., Wang, Y., Ball, E. V., Stenson, P. D., Mort, M. E., Bacolla, A., Kehrer‐Sawatzki, H., Tainer, J. A., Cooper, D. N., et al. (2022) · Human Genetics · doi:10.1007/s00439-022-02500-6 · Cited by 1
Systems biology study of Huntington's disease
Dionisio, L. E., Langfelder, P., Aaronson, J. S., Rosinski, J., & Yang, X. W. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95672-7.00006-6 · Cited by 1
An unexpected polyglycine route to spinocerebellar ataxia
Charlet‐Berguerand, N. (2024) · Nature Genetics · doi:10.1038/s41588-024-01770-2 · Cited by 1
The Plethora of RNA–Protein Interactions Model a Basis for RNA Therapies
Dansereau, S. J., Cui, H. L., Dartawan, R., & Sheng, J. (2025) · Genes · doi:10.3390/genes16010048 · Cited by 1
The role of spatial arrangement of aromatic rings on the binding of N , N ′-diheteroaryl guanidine ligands to the G2C4/G2C4 motif DNA
Murakami, E., Shibata, T., Tomemori, M., Kawai, G., & Nakatani, K. (2025) · Physical Chemistry Chemical Physics · doi:10.1039/d4cp03213f · Cited by 1
The Cerebellum and the Hereditary Ataxias
Orengo, J. P., & Zoghbi, H. Y. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00113-x · Cited by 1
Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability
Deleanu, R. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199755 · Cited by 1
SUMO protease FUG1, histone reader AL3 and the PRC1 Complex are integral to repeat-expansion induced epigenetic silencing in Arabidopsis thalianaPreprint
Sureshkumar, S., Bandaranayake, C., Lu, J., Dent, C., Atri, C., York, H. M., Tamizhselvan, P., Shamaya, N., Folini, G., Bhagat, P. K., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.13.523841 · Cited by 1
MASTR-seq: Multiplexed Analysis of Short Tandem Repeats with sequencingPreprint
Chuanbin, S., Chandradoss, K. R., Malachowski, T., Boya, R., Ryu, H.-S., Brennand, K., & Phillips‐Cremins, J. E. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.29.591790 · Cited by 1
The Human Genome and Inheritance
Erbilgin, Y., & Sayitoğlu, M. (2024) · doi:10.1002/9781119989233.ch15 · Cited by 1
Establishment of a second-generation transgenic marmoset model of polyglutamine disease recapitulating neurological symptoms and pathologyPreprint
Minakawa, E. N., Owari, K., Nogami, N., Nakatani, T., Koizumi, M., Kawanobe, A., Saga, Y., Kudo, M., Noguchi, S., Hanakawa, T., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.12.642922 · Cited by 1
The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37Preprint
Loureiro, J. R., Castro, A. F., Figueiredo, A. S., Eufrásio, A., Dhingra, A., Galhardo, M., Marcelino, H., Rodrigues, C., Sampaio, P., Azevedo, M. M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.03.657633 · Cited by 1
Treating Myotonic Dystrophy with artificial RNA endonucleases to specifically degrade toxic RNA expansionsPreprint
Wei, T., Hu, H., Jiang, X., Li, Y., Han, W., Yang, Y., Xiao, X., Mao, M., & Wang, Z. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.10.658795 · Cited by 1
A distal promoter and aberrant splicing enable canonical translation of out-of-frame proteins in Huntington’s diseasePreprint
Anderson, R., Soni, T., & Jain, A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.20.683480 · Cited by 1
Large-scale sequencing study of de novo regulatory Tandem Repeats (TRs) identifies new ASD (Autism Spectrum Disorders) candidate genes integrating gene expression mapping, brain scRNA-seq and organoid models.Preprint
Fontenla, M. C. R., Carballo-Pacoret, P., Dominguez-Alonso, S., Gonzalez-Peñas, J., Parellada, M., Arango, C., & Carracedo, Á. (2026) · Research Square · doi:10.21203/rs.3.rs-8374597/v1 · Cited by 1
Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortiumPreprint
Yépez, V. A., Luknárová, R., Beijer, D., Estévez‐Arias, B., Mei, D., Morsy, H., Mueller, J. S., Polavarapu, K., Demidov, G. M., Doornbos, C., et al. (2026) · medRxiv · doi:10.64898/2026.02.10.26345954 · Cited by 4
The cellular functions of G-quadruplex in neurological diseases
Shioda, N. (2022) · Folia Pharmacologica Japonica · doi:10.1254/fpj.21116
Small Molecules Targeting Repeat Sequences Causing Neurological Disorders
Das, B., Shibata, T., & Nakatani, K. (2022) · Springer eBooks · doi:10.1007/978-981-16-1313-5_68-1
Non-coding repeat expansions associated with familial adult myoclonic epilepsy: a new paradigm of gene-independent monogenic disorders
Kühnel, T., & Depienne, C. (2022) · e-Neuroforum · doi:10.1515/nf-2022-0024
FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTDPreprint
Fujino, Y., Ueyama, M., Ishiguro, T., Ozawa, D., Sugiki, T., Ito, H., Murata, A., Ishiguro, A., Gendron, T. F., Mori, K., et al. (2023) · eLife · doi:10.7554/elife.84338.1
Diagnóstico de deficiência intelectual sindrômica por sequenciamento de nova geração em famílias consanguíneas
Shinzato, A. (2022) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2022.tde-23112022-150300
Reconstitution of C9orf72 (GGGGCC) repeat-associated non-AUG translation with purified componentsPreprint
Ito, H., Machida, K., Ueyama, M., Nagai, Y., Imataka, H., & Taguchi, H. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.29.542719
Genetics of Dominant Ataxias
Yahia, A., & Stévanin, G. (2023) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-24345-5_4
FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTDPreprint
Fujino, Y., Ueyama, M., Ishiguro, T., Ozawa, D., Ito, H., Sugiki, T., Murata, A., Ishiguro, A., Gendron, T. F., Mori, K., et al. (2023) · eLife · doi:10.7554/elife.84338.2
Spinocerebellar ataxia type 1: It’s not just about Purkinje cells
Opal, P. (2023) · Neuron · doi:10.1016/j.neuron.2023.07.014
RNA repeats stall translation
Zhu, Z., & Yang, P. (2023) · Nature Chemical Biology · doi:10.1038/s41589-023-01404-4
Formation and Function of Phase-Separated Nuclear Bodies Directed by Architectural Noncoding RNA
Takakuwa, H., Yamazaki, T., & Hirose, T. (2023) · Springer eBooks · doi:10.1007/978-981-99-4886-4_8
Patterns of low-complexity regions in human genesPreprint
Teekas, L., & Vijay, N. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.01.569686
Protein Repeats Show Clade-Specific Volatility in Aves
Sharma, S., Teekas, L., & Vijay, N. (2023) · Molecular Biology · doi:10.1134/s0026893324010163
The Effective of Algorithms on Web Application Development to Detect Repetitive DNA
Butrak, T., Charoenrak, S., Charuphanthuset, T., & Chairungsee, S. (2023) · International Conference on Information Technology: IoT and Smart City (ICIT) · doi:10.1145/3638985.3638992
Deciphering the mechanisms of gene silencing induced by triplet-repeat expansions
(2024) · Nature Plants · doi:10.1038/s41477-024-01673-4
Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease
Calame, D. G., Marafi, D., & Lupski, J. R. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-99417-0.00009-4
Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2
Yang, Y., Wang, Y., Yan, Z., Li, Z., & Guo, P. (2024) · FEBS Letters · doi:10.1002/1873-3468.14952
Author response: Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditions
Tutak, K., Broniarek, I., Zieleziński, A., Niewiadomska, D., Baud, A., & Sobczak, K. (2024) · eLife · doi:10.7554/elife.98631.1.sa4
Reviewer #1 (Public Review): Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditions
(2024) · eLife · doi:10.7554/elife.98631.1.sa2
Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditionsPreprint
Tutak, K., Broniarek, I., Zieleziński, A., Niewiadomska, D., Baud, A., & Sobczak, K. (2024) · eLife · doi:10.7554/elife.98631.1
Reviewer #3 (Public Review): Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditions
(2024) · eLife · doi:10.7554/elife.98631.1.sa0
Reviewer #2 (Public Review): Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditions
(2024) · eLife · doi:10.7554/elife.98631.1.sa1
eLife Assessment: Ribosomal composition affects the noncanonical translation and toxicity of polyglycine-containing proteins in fragile X-associated conditions
Topisirović, I. (2024) · eLife · doi:10.7554/elife.98631.1.sa3
Pre‐mRNA Splicing Modulation
Barraza, S. J., & Woll, M. G. (2024) · Methods and principles in medicinal chemistry · doi:10.1002/9783527840458.ch7
Protein repeats show clade-specific volatility in Aves
Sharma, S., Teekas, L., & Vijay, N. (2024) · Molecular Biology · doi:10.31857/s0026898424010066
NMR structures and magnetic force spectroscopy studies of small molecules binding to models of an RNA CAG repeat expansionPreprint
Taghavi, A., Chen, J. L., Wang, Z., Sinnadurai, K., Salthouse, D. G., Ozon, M., Feri, A., Fountain, M. A., Choudhary, S., Childs‐Disney, J. L., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.20.608150
Electrophoretic Analysis of Replication through Structure-prone DNA Repeats within the SV40-based Human Episome
Mandel, N. H., & Mirkin, S. M. (2024) · Journal of Visualized Experiments · doi:10.3791/67229
Epigenetic gene silencing in plants: Insights from triplet repeat expansion in Arabidopsis
Gu, J., Noor, I., Yang, X., & Sohail, H. (2024) · Functional & Integrative Genomics · doi:10.1007/s10142-024-01463-3
Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditionsPreprint
Tutak, K., Broniarek, I., Zieleziński, A., Niewiadomska, D., Skrzypczak, T., Baud, A., & Sobczak, K. (2025) · eLife · doi:10.7554/elife.98631.2 · Cited by 2

Authors: Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K.
Affiliations: University of Michigan (US)
University of Florida (US)
Corresponding author: Todd, Peter K.
ORCID: Malik, Indranil
Kelley, Chase P.
Wang, Eric T.
Todd, Peter K.
Venue: Nature Reviews Molecular Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2021-06-17
Volume: 22
Issue: 9
Pages: 589-607
ISSN: 1471-0072 (ISSN-L)
1471-0080
DOI: 10.1038/s41580-021-00382-6
PMC: PMC9612635
OpenAlex: W3170696603
Cited by: 363
References: 286
Citations by year: 2026: 71 · 2025: 77 · 2024: 92 · 2023: 66 · 2022: 48 · 2021: 9
FWCI: 8.06
Type: journal article
Language: en
Update notices: correction (2021-07-06)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Molecular Cell Biology (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Veterans Affairs (I01 BX004842)
National Institute on Aging (R01AG058636)
National Institute of Neurological Disorders and Stroke (R01NS112291, R01NS086810, R01NS114253, R01NS099280)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD104463)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: microsatellite markers, C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, Huntington's disease, myotonic dystrophy, fragile X syndrome, transcriptional repression, repeat-associated non-AUG translation, age of onset, tissue specificity, therapeutic target
MeSH terms: R-Loop Structures, Animals, Humans, Mutation, Organ Specificity, RNA, Protein Biosynthesis, RNA-Binding Proteins, Neurodegenerative Diseases, Gene Silencing, DNA Repeat Expansion, Genomic Instability

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

Molecular mechanisms underlying nucleotide repeat expansion disorders

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks