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Journal articles on the topic 'GGGGCC repeats'

Author: Grafiati

Published: 7 July 2024

Last updated: 31 July 2025

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1

Jiao, Bin, Mengli Wang, Hao Feng, et al. "Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats." Human Molecular Genetics 30, no. 10 (2021): 893–901. http://dx.doi.org/10.1093/hmg/ddab079.

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Abstract GGGGCC repeats in a non-coding region of the C9orf72 gene have been identified as a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We previously showed that the GGGGCC expanded repeats alone were sufficient to cause neurodegeneration in Drosophila. Recent evidence indicates that GGGGCC expanded repeats can modify various gene transcriptomes. To determine the role of these genes in GGGGCC-mediated neurotoxicity, we screened an established Drosophila model expressing GGGGCC expanded repeats in this study. Our results showed that knockdown of the

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2

Liu, Xiaole, Xinyue Zhao, Jinhan He, et al. "Advances in the Structure of GGGGCC Repeat RNA Sequence and Its Interaction with Small Molecules and Protein Partners." Molecules 28, no. 15 (2023): 5801. http://dx.doi.org/10.3390/molecules28155801.

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The aberrant expansion of GGGGCC hexanucleotide repeats within the first intron of the C9orf72 gene represent the predominant genetic etiology underlying amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The transcribed r(GGGGCC)n RNA repeats form RNA foci, which recruit RNA binding proteins and impede their normal cellular functions, ultimately resulting in fatal neurodegenerative disorders. Furthermore, the non-canonical translation of the r(GGGGCC)n sequence can generate dipeptide repeats, which have been postulated as pathological causes. Comprehensive structural ana

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3

van ‘t Spijker, Heleen M., Emily E. Stackpole, Sandra Almeida, et al. "Ribosome profiling reveals novel regulation of C9ORF72 GGGGCC repeat-containing RNA translation." RNA 28, no. 2 (2021): 123–38. http://dx.doi.org/10.1261/rna.078963.121.

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GGGGCC (G4C2) repeat expansion in the first intron of C9ORF72 causes amyotrophic lateral sclerosis and frontotemporal dementia. Repeat-containing RNA is translated into dipeptide repeat (DPR) proteins, some of which are neurotoxic. Using dynamic ribosome profiling, we identified three translation initiation sites in the intron upstream of (G4C2) repeats; these sites are detected irrespective of the presence or absence of the repeats. During translocation, ribosomes appear to be stalled on the repeats. An AUG in the preceding C9ORF72 exon initiates a uORF that inhibits downstream translation. P

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4

Babić Leko, Mirjana, Vera Župunski, Jason Kirincich, et al. "Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion." Behavioural Neurology 2019 (January 15, 2019): 1–18. http://dx.doi.org/10.1155/2019/2909168.

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Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions. An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). Normal individuals carry 2–10 hexanucleoti

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5

Ohki, Yu, Andrea Wenninger-Weinzierl, Alexander Hruscha, et al. "Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration." Molecular Neurodegeneration 12, no. 1 (2017): 6. https://doi.org/10.1186/s13024-016-0146-8.

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<strong>Background: </strong>The most frequent genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 (<i>C9orf72)</i> locus. The pathological hallmarks observed in <i>C9orf72</i> repeat expansion carriers are the formation of RNA foci and deposition of dipeptide repeat (DPR) proteins derived from repeat associated non-ATG (RAN) translation. Currently, it is unclear whether formation of RNA foci, DPR translation products, or partial loss

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6

Yan, Bing, Monica Ching Suen, Naining Xu, Chao Lu, Changdong Liu, and Guang Zhu. "G-Quadruplex Structures Formed by Human Telomere and C9orf72 GGGGCC Repeats." International Journal of Molecular Sciences 26, no. 4 (2025): 1591. https://doi.org/10.3390/ijms26041591.

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G-quadruplexes (G4s) are unique nucleic acid structures composed of guanine-rich (G-rich) sequences that can form diverse topologies based on the arrangement of their four strands. G4s have attracted attention for their potential roles in various biological processes and human diseases. In this review, we focus on the G4 structures formed by human telomeric sequences, (GGGTTA)n, and the hexanucleotide repeat expansion, (GGGGCC)n, in the first intron region of the chromosome 9 open reading frame 72 (C9orf72) gene, highlighting their structural diversity and biological significance. Human telome

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7

Hatanaka, Yukari, Tomohiro Umeda, Keiko Shigemori, Toshihide Takeuchi, Yoshitaka Nagai, and Takami Tomiyama. "C9orf72 Hexanucleotide Repeat Expansion-Related Neuropathology Is Attenuated by Nasal Rifampicin in Mice." Biomedicines 10, no. 5 (2022): 1080. http://dx.doi.org/10.3390/biomedicines10051080.

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The non-coding GGGGCC hexanucleotide repeat expansion (HRE) in C9orf72 gene is a dominant cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This intronic mutation elicits the formation of nuclear and cytoplasmic inclusions containing RNA, RNA-binding proteins, and HRE-derived dipeptide repeat proteins (DPRs), leading to neurodegeneration via the gain-of-toxic function or loss-of-function of relevant proteins. Using C9-500 mice harboring ~500 repeats of the GGGGCC sequence in human C9orf72 gene, we investigated the effects of rifampicin against HRE-related patholog

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8

Zhang, Yong-Jie, Lin Guo, Patrick K. Gonzales, et al. "Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity." Science 363, no. 6428 (2019): eaav2606. http://dx.doi.org/10.1126/science.aav2606.

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How hexanucleotide GGGGCC (G4C2) repeat expansions in C9orf72 cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is not understood. We developed a mouse model engineered to express poly(PR), a proline-arginine (PR) dipeptide repeat protein synthesized from expanded G4C2 repeats. The expression of green fluorescent protein–conjugated (PR)50 (a 50-repeat PR protein) throughout the mouse brain yielded progressive brain atrophy, neuron loss, loss of poly(PR)-positive cells, and gliosis, culminating in motor and memory impairments. We found that poly(PR) bound DNA, localize

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9

Shevchuk, Denis V., Natalya Yu Abramycheva, Arina R. Protsenko, Darya A. Grishinа, Angelina G. Makarova, and Maria N. Zakharova. "Young-Onset Amyotrophic Lateral Sclerosis: Genetic Structure and Phenotypic Features." Annals of Clinical and Experimental Neurology 19, no. 2 (2025): 25–33. https://doi.org/10.17816/acen.1317.

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Introduction. Young-onset amyotrophic lateral sclerosis (yALS) is a rare neurodegenerative disease characterized by the onset of clinical manifestations before the age of 45. The global prevalence, incidence, and genetic structure of yALS remain largely unknown, and the diagnosis is based primarily on clinical presentation, neurophysiologic findings, and molecular genetic analysis. Aim. The aim of this study was to analyze cases of yALS in the Russian Center of Neurology and Neurosciences. Materials and methods. A total of 365 ALS cases were analyzed, of which 47 (12.8%) patients met the crite

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10

Teng, Ye, Ming Zhu, and Zhidong Qiu. "G-quadruplexes in Repeat Expansion Disorders." International Journal of Molecular Sciences 24, no. 3 (2023): 2375. http://dx.doi.org/10.3390/ijms24032375.

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The repeat expansions are the main genetic cause of various neurodegeneration diseases. More than ten kinds of repeat sequences with different lengths, locations, and structures have been confirmed in the past two decades. G-rich repeat sequences, such as CGG and GGGGCC, are reported to form functional G-quadruplexes, participating in many important bioprocesses. In this review, we conducted an overview concerning the contribution of G-quadruplex in repeat expansion disorders and summarized related mechanisms in current pathological studies, including the increasing genetic instabilities in re

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11

Haeusler, Aaron R. "Nucleotide Structural Polymorphisms Formed by GGGGCC Repeats Cause C9orf72 Abortive Transcription and Nucleolar Stress." Biophysical Journal 106, no. 2 (2014): 488a. http://dx.doi.org/10.1016/j.bpj.2013.11.4477.

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12

Balendra, Rubika, Igor Ruiz de los Mozos, Hana M. Odeh, et al. "Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides." Life Science Alliance 6, no. 9 (2023): e202201824. http://dx.doi.org/10.26508/lsa.202201824.

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An intronic GGGGCC repeat expansion inC9orf72is a common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. The repeats are transcribed in both sense and antisense directions to generate distinct dipeptide repeat proteins, of which poly(GA), poly(GR), and poly(PR) have been implicated in contributing to neurodegeneration. Poly(PR) binding to RNA may contribute to toxicity, but analysis of poly(PR)-RNA binding on a transcriptome-wide scale has not yet been carried out. We therefore performed crosslinking and immunoprecipitation (CLIP) analysis in human cells to identify

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13

DeJesus-Hernandez, Mariely, Ross A. Aleff, Jazmyne L. Jackson, et al. "Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases." Brain 144, no. 4 (2021): 1082–88. http://dx.doi.org/10.1093/brain/awab006.

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Abstract To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp sequencing. In our cross-sectional study, we assessed cerebellar tissue from 28 well-characterized C9orf72 expansion carriers. We obtained 3507 on-target circular consensus sequencing reads, of which 814 bridged the C9orf72 repeat expansion (23%). Importantly, we observed a significant correlation between expansion sizes obtained u

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14

Halim, Dilara O., Gopinath Krishnan, Evan P. Hass, et al. "The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD." Cell Reports 43, no. 7 (2024): 114375. http://dx.doi.org/10.1016/j.celrep.2024.114375.

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15

Reddy, Kaalak, Monika H. M. Schmidt, Jaimie M. Geist, et al. "Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability." Nucleic Acids Research 42, no. 16 (2014): 10473–87. http://dx.doi.org/10.1093/nar/gku658.

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16

Taki, Motahareh, Kushal J. Rohilla, Maria Barton, et al. "Novel probes for label-free detection of neurodegenerative GGGGCC repeats associated with amyotrophic lateral sclerosis." Analytical and Bioanalytical Chemistry 411, no. 26 (2019): 6995–7003. http://dx.doi.org/10.1007/s00216-019-02075-8.

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17

van der Ende, Emma L., Jazmyne L. Jackson, Adrianna White, Harro Seelaar, Marka van Blitterswijk, and John C. Van Swieten. "Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions." Journal of Neurology, Neurosurgery & Psychiatry 92, no. 5 (2021): 502–9. http://dx.doi.org/10.1136/jnnp-2020-325377.

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Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been associated with a wider spectrum of phenotypes, including other types of dementia, movement disorders, psychiatric symptoms and slowly progressive FTD. Prompt recognition of patients with C9orf72-associated diseases is essential in light of upcoming clinical trials. The striking clinical heterogeneity associated with C9orf72 repeat expansions remains largely unexplained. In contrast to other repeat expansion disorders,

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18

Satoh, Jun-Ichi, Yoji Yamamoto, Shouta Kitano, Mika Takitani, Naohiro Asahina, and Yoshihiro Kino. "Molecular Network Analysis Suggests a Logical Hypothesis for the Pathological Role of C9orf72 in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia." Journal of Central Nervous System Disease 6 (January 2014): JCNSD.S18103. http://dx.doi.org/10.4137/jcnsd.s18103.

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Background Expanded GGGGCC hexanucleotide repeats, ranging from hundreds to thousands in number, located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (abbreviated as C9ALS). Currently, three pathological mechanisms, such as haplo insufficiency of C9orf72, formation of nuclear RNA foci composed of sense and antisense repeats, and accumulation of unconventionally transcribed dipeptide-repeat (DPR) proteins, are proposed

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19

Cooper-Knock, Johnathan, Joanna J. Bury, Paul R. Heath, et al. "C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis." PLOS ONE 10, no. 5 (2015): e0127376. http://dx.doi.org/10.1371/journal.pone.0127376.

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20

Ormandzhiev, S., T. Todorov, T. Angelov, et al. "Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients." Acta Medica Bulgarica 49, no. 1 (2022): 12–16. http://dx.doi.org/10.2478/amb-2022-0002.

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Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized by progressive degeneration of the upper and lower motor neurons, leading to muscle weakness, hypotrophy, swallowing and respiratory failure. The cause of ALS is not yet fully elucidated, but there are 35 associated genes and 2 gene loci with an unidentified gene. The most common are C9orf72, SOD1, TARDBP and FUS found in approximately 10% of patients. Variants in the C9orf72 gene are the main cause of fALS – 25-40% of cases (and a small percentage of sALS). The goal of the present study was to evaluate

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21

Shpilyukova, Yu A., E. Yu Fedotova, T. V. Pogoda, et al. "Evaluation of methylation status of the 5’-promoter region of C9orf72 gene in Russian patients with neurodegenerative diseases." Neuromuscular Diseases 8, no. 2 (2018): 33–41. http://dx.doi.org/10.17650/2222-8721-2018-8-2-33-41.

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Background. Hexanucleotide repeat expansion in the C9orf72 gene is the most significant cause of a large number of neurodegenerative diseases: frontotemporal degeneration (FTD), amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD), etc. Several studies have shown the relationship with the neurodegenerative process for full (>40 GGGGCC copies) and intermediate (13–20) repeats expansion. Methylation of the C9orf72 gene can play an important role in the pathogenesis of FTD and ALS, but the mechanism has not been sufficiently studied.The objective is to investigate the status of methyl

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22

Shi, Kevin Y., Eiichiro Mori, Zehra F. Nizami, et al. "Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export." Proceedings of the National Academy of Sciences 114, no. 7 (2017): E1111—E1117. http://dx.doi.org/10.1073/pnas.1620293114.

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The toxic proline:arginine (PRn) poly-dipeptide encoded by the (GGGGCC)n repeat expansion in the C9orf72 form of heritable amyotrophic lateral sclerosis (ALS) binds to the central channel of the nuclear pore and inhibits the movement of macromolecules into and out of the nucleus. The PRn poly-dipeptide binds to polymeric forms of the phenylalanine:glycine (FG) repeat domain, which is shared by several proteins of the nuclear pore complex, including those in the central channel. A method of chemical footprinting was used to characterize labile, cross-β polymers formed from the FG domain of the

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23

Zhang, Yuan, Christopher Roland, and Celeste Sagui. "Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases." ACS Chemical Neuroscience 9, no. 5 (2017): 1104–17. http://dx.doi.org/10.1021/acschemneuro.7b00476.

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24

Kaur, Jaslovleen, Shaista Parveen, Uzma Shamim, et al. "Investigations of Huntington’s Disease and Huntington’s Disease-Like Syndromes in Indian Choreatic Patients." Journal of Huntington's Disease 9, no. 3 (2020): 283–89. http://dx.doi.org/10.3233/jhd-200398.

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Background: The diagnostic workup for choreiform movement disorders including Huntington’s disease (HD) and those mimicking HD like phenotype is complex. Objective: The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. Materials and methods: 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first

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Hu, Jiaxin, Jing Liu, Liande Li, Keith T. Gagnon, and David R. Corey. "Engineering Duplex RNAs for Challenging Targets: Recognition of GGGGCC/CCCCGG Repeats at the ALS/FTD C9orf72 Locus." Chemistry & Biology 22, no. 11 (2015): 1505–11. http://dx.doi.org/10.1016/j.chembiol.2015.09.016.

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26

Kitano, Shouta, Yoshihiro Kino, Yoji Yamamoto, et al. "Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72." Journal of Central Nervous System Disease 7 (January 2015): JCNSD.S24317. http://dx.doi.org/10.4137/jcnsd.s24317.

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Background Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Formation of nuclear RNA foci, accumulation of repeat-associated non-ATG-translated dipeptide-repeat proteins, and haploinsufficiency of C9orf72 are proposed for pathological mechanisms of C9ALS/FTD. However, at present, the physiological function of C9orf72 remains largely unknown. Methods By searching on a bioinfo

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27

Chong, Zhao Zhong, and Nizar Souayah. "Targeting Gene C9orf72 Pathogenesis for Amyotrophic Lateral Sclerosis." International Journal of Molecular Sciences 26, no. 9 (2025): 4276. https://doi.org/10.3390/ijms26094276.

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Amyotrophic lateral sclerosis (ALS) is a fatal adult neurodegenerative disorder. Since no cure has been found, finding effective therapeutic targets for ALS remains a major challenge. Gene C9orf72 mutations with the formation of hexanucleotide repeat (GGGGCC) expansion (HRE) have been considered the most common genetic pathogenesis of ALS. The literature review indicates that the C9orf72 HRE causes both the gain-of-function toxicity and loss of function of C9ORF72. The formation of RNA foci and dipeptide repeats (DPRs) resulting from HRE is responsible for toxic function gain. The RNA foci can

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Dunn, Ella, Joern R. Steinert, Aelfwin Stone, et al. "Medium-Chain Fatty Acids Rescue Motor Function and Neuromuscular Junction Degeneration in a Drosophila Model of Amyotrophic Lateral Sclerosis." Cells 12, no. 17 (2023): 2163. http://dx.doi.org/10.3390/cells12172163.

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Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterised by progressive degeneration of the motor neurones. An expanded GGGGCC (G4C2) hexanucleotide repeat in C9orf72 is the most common genetic cause of ALS and frontotemporal dementia (FTD); therefore, the resulting disease is known as C9ALS/FTD. Here, we employ a Drosophila melanogaster model of C9ALS/FTD (C9 model) to investigate a role for specific medium-chain fatty acids (MCFAs) in reversing pathogenic outcomes. Drosophila larvae overexpressing the ALS-associated dipeptide repeats (DPRs) in the nervous

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Božič, Tim, Matja Zalar, Boris Rogelj, Janez Plavec, and Primož Šket. "Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD." Molecules 25, no. 3 (2020): 525. http://dx.doi.org/10.3390/molecules25030525.

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The hexanucleotide expansion GGGGCC located in C9orf72 gene represents the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD). Since the discovery one of the non-exclusive mechanisms of expanded hexanucleotide G4C2 repeats involved in ALS and FTLD is RNA toxicity, which involves accumulation of pathological sense and antisense RNA transcripts. Formed RNA foci sequester RNA-binding proteins, causing their mislocalization and, thus, diminishing their biological function. Therefore, structures adopted by pathological RNA transcripts could hav

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Lopez-Gonzalez, Rodrigo, Dejun Yang, Mochtar Pribadi, et al. "Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD." Proceedings of the National Academy of Sciences 116, no. 19 (2019): 9628–33. http://dx.doi.org/10.1073/pnas.1901313116.

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GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One class of major pathogenic molecules in C9ORF72-ALS/FTD is dipeptide repeat proteins such as poly(GR), whose toxicity has been well documented in cellular and animal models. However, it is not known how poly(GR) toxicity can be alleviated, especially in patient neurons. Using Drosophila as a model system in an unbiased genetic screen, we identified a number of genetic modifiers of poly(GR) toxicity. Surprisingly, partial loss of function of Ku8

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Buchman, Vladimir L., Johnathan Cooper-Knock, Natalie Connor-Robson, et al. "Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation." Molecular Neurodegeneration 8, no. 1 (2013): 12. http://dx.doi.org/10.1186/1750-1326-8-12.

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Steffke, Christina, Shreya Agarwal, Edor Kabashi, and Alberto Catanese. "Overexpression of Toxic Poly(Glycine-Alanine) Aggregates in Primary Neuronal Cultures Induces Time-Dependent Autophagic and Synaptic Alterations but Subtle Activity Impairments." Cells 13, no. 15 (2024): 1300. http://dx.doi.org/10.3390/cells13151300.

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The pathogenic expansion of the intronic GGGGCC hexanucleotide located in the non-coding region of the C9orf72 gene represents the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation leads to the accumulation of toxic RNA foci and dipeptide repeats (DPRs), as well as reduced levels of the C9orf72 protein. Thus, both gain and loss of function are coexisting pathogenic aspects linked to C9orf72-ALS/FTD. Synaptic alterations have been largely described in C9orf72 models, but it is still not clear which aspect of the pathology mostly

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Mori, Kohji, Sven Lammich, Ian R. A. Mackenzie, et al. "hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations." Acta Neuropathologica 125, no. 3 (2013): 413–23. http://dx.doi.org/10.1007/s00401-013-1088-7.

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Zhang, Yuan, Christopher Roland, and Celeste Sagui. "Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases." ACS Chemical Neuroscience 8, no. 3 (2016): 578–91. http://dx.doi.org/10.1021/acschemneuro.6b00348.

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35

Freibaum, Brian D., Yubing Lu, Rodrigo Lopez-Gonzalez, et al. "GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport." Nature 525, no. 7567 (2015): 129–33. http://dx.doi.org/10.1038/nature14974.

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Thys, Ryan Griffin, and Yuh-Hwa Wang. "DNA Replication Dynamics of the GGGGCC Repeat of theC9orf72Gene." Journal of Biological Chemistry 290, no. 48 (2015): 28953–62. http://dx.doi.org/10.1074/jbc.m115.660324.

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37

Akimoto, Chizuru, Lars Forsgren, Jan Linder, et al. "No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14, no. 1 (2012): 26–29. http://dx.doi.org/10.3109/17482968.2012.725415.

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Fratta, Pietro, Mark Poulter, Tammaryn Lashley, et al. "Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia." Acta Neuropathologica 126, no. 3 (2013): 401–9. http://dx.doi.org/10.1007/s00401-013-1147-0.

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39

Ye, Amanda J., W. John Haynes, and Daniel P. Romero. "Expression of Mutated Paramecium Telomerase RNAs In Vivo Leads to Templating Errors That Resemble Those Made by Retroviral Reverse Transcriptase." Molecular and Cellular Biology 19, no. 4 (1999): 2887–94. http://dx.doi.org/10.1128/mcb.19.4.2887.

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ABSTRACT Telomeric DNA consists of short, tandemly repeated sequences at the ends of chromosomes. Telomeric DNA in the ciliate Paramecium tetraurelia is synthesized by an error-prone telomerase with an RNA template specific for GGGGTT repeats. We have previously shown that misincorporation of TTP residues at the telomerase RNA templating nucleotide C52 accounts for the 30% GGGTTT repeats randomly distributed in wild-type telomeres. To more completely characterize variable repeat synthesis in P. tetraurelia, telomerase RNA genes mutated at C52 (A, U, and G) were expressed in vivo. De novo telom

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Mori, K., S. M. Weng, T. Arzberger, et al. "The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS." Science 339, no. 6125 (2013): 1335–38. http://dx.doi.org/10.1126/science.1232927.

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Zhang, Yun, Junliu Huang, Kainan Yu, and Xiaojie Cui. "G-Quadruplexes Formation by the C9orf72 Nucleotide Repeat Expansion d(GGGGCC)n and Conformation Regulation by Fangchinoline." Molecules 28, no. 12 (2023): 4671. http://dx.doi.org/10.3390/molecules28124671.

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The G-quadruplex (GQ)-forming hexanucleotide repeat expansion (HRE) in the C9orf72 (C9) gene has been found to be the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (collectively, C9ALS/FTD), implying the great significance of modulating C9-HRE GQ structures in C9ALS/FTD therapeutic treatment strategies. In this study, we investigated the GQ structures formed by varied lengths of C9-HRE DNA sequences d(GGGGCC)4 (C9-24mer) and d(GGGGCC)8 (C9-48mer), and found that the C9-24mer forms anti-parallel GQ (AP-GQ) in the presence of potassium ions, while the

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42

Tseng, Yi-Ju, Siara N. Sandwith, Katelyn M. Green, et al. "The RNA helicase DHX36–G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat–associated translation." Journal of Biological Chemistry 297, no. 2 (2021): 100914. http://dx.doi.org/10.1016/j.jbc.2021.100914.

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43

Konno, T., A. Shiga, A. Tsujino, et al. "Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72." Journal of Neurology, Neurosurgery & Psychiatry 84, no. 4 (2012): 398–401. http://dx.doi.org/10.1136/jnnp-2012-302272.

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Brčić, Jasna, and Janez Plavec. "G-quadruplex formation of oligonucleotides containing ALS and FTD related GGGGCC repeat." Frontiers of Chemical Science and Engineering 10, no. 2 (2016): 222–37. http://dx.doi.org/10.1007/s11705-016-1556-4.

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He, Hua, Wen Huang, Ruoxi Wang, et al. "Amyotrophic Lateral Sclerosis-associated GGGGCC repeat expansion promotes Tau phosphorylation and toxicity." Neurobiology of Disease 130 (October 2019): 104493. http://dx.doi.org/10.1016/j.nbd.2019.104493.

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Lu, Yihuan, Chikara Dohno, and Kazuhiko Nakatani. "Recognition of expanded GGGGCC hexanucleotide repeat by synthetic ligand through interhelical binding." Biochemical and Biophysical Research Communications 531, no. 1 (2020): 56–61. http://dx.doi.org/10.1016/j.bbrc.2020.03.107.

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Goodman, Lindsey D., and Nancy M. Bonini. "Repeat-associated non-AUG (RAN) translation mechanisms are running into focus for GGGGCC-repeat associated ALS/FTD." Progress in Neurobiology 183 (December 2019): 101697. http://dx.doi.org/10.1016/j.pneurobio.2019.101697.

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Rutherford, Nicola J., Michael G. Heckman, Mariely DeJesus-Hernandez, et al. "Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype." Neurobiology of Aging 33, no. 12 (2012): 2950.e5–2950.e7. http://dx.doi.org/10.1016/j.neurobiolaging.2012.07.005.

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Zamiri, Bita, Kaalak Reddy, Christopher E. Pearson, and Robert B. Macgregor. "The Structure of the Disease-Associated (GGGGCC)N Repeat from the C9ORF72 Gene." Biophysical Journal 106, no. 2 (2014): 283a. http://dx.doi.org/10.1016/j.bpj.2013.11.1655.

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Celona, Barbara, Sally E. Salomonsson, Haifan Wu, et al. "Zfp106 binds to G-quadruplex RNAs and inhibits RAN translation and formation of RNA foci caused by G4C2 repeats." Proceedings of the National Academy of Sciences 121, no. 31 (2024). http://dx.doi.org/10.1073/pnas.2220020121.

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Expansion of intronic GGGGCC repeats in the C9orf72 gene causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Transcription of the expanded repeats results in the formation of RNA-containing nuclear foci and altered RNA metabolism. In addition, repeat-associated non-AUG (RAN) translation of the expanded GGGGCC-repeat sequence results in the production of highly toxic dipeptide-repeat (DPR) proteins. GGGGCC repeat–containing transcripts form G-quadruplexes, which are associated with formation of RNA foci and RAN translation. Zfp106, an RNA-binding protein essential for motor

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