Relevant bibliographies by topics / GGGGCC repeats

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  2. Dissertations / Theses
  3. Conference papers

Academic literature on the topic 'GGGGCC repeats'

Author: Grafiati
Published: 7 July 2024
Last updated: 31 July 2025

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Journal articles on the topic "GGGGCC repeats"

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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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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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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "GGGGCC repeats"

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taki, motahareh. "DEVELOPING PROBES FOR LABEL-FREE DETECTION OF HEXANUCLEOTIDE GGGGCC REPEATS BY ELECTROCHEMICAL IMPEDANCE SPECTROSCOPY." OpenSIUC, 2019. https://opensiuc.lib.siu.edu/theses/2634.

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DNA repeat expansion sequences cause a myriad of neurological diseases when they expand beyond a critical threshold. Previous electrochemical approaches focused on the detection of trinucleotide repeats (CAG, CGG, and GAA) and relied on labeling of the probe and/or target strands or enzyme-linked assays. However, detection of expanded GC-rich sequences is challenging because they are prone to forming secondary structures such as cruciforms and quadruplexes. Here, we present label-free detection of hexanucleotide GGGGCC repeat sequences, which cause the leading genetic form of frontotemporal de
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Pietri, David. "Structure and function of the C9ORF72-SMCR8-WDR41 complex and its implication for Amyotrophic Lateral Sclerosis (ALS)." Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ087.

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La sclérose latérale amyotrophique (SLA ou maladie de Charcot) est la troisième maladie neurodégénérative la plus répandue. La principale cause génétique de la SLA est une expansion de répétitions GGGGCC dans le gène C9ORF72, dont la protéine forme un complexe avec les protéines SMCR8 et WDR41. Afin de mieux comprendre ses fonctions moléculaires, résoudre sa structure était un objectif principal de ma thèse. En parallèle, nous avons découvert que C9ORF72 régule un mécanisme nouvellement décrit de biogenèse de nouveaux lysosomes nommé reformation autophagique des lysosomes (ALR). Ce processus a
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Workinger, Paul M., and Paul M. Workinger. "Familial Amyotrophic Lateral Sclerosis with a focus on C9orf72 Hexanucleotide GGGGCC Repeat Expansion Associated ALS with Frontotemporal Dementia." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625350.

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Amyotrophic Lateral Sclerosis (ALS) is a rare and fatal neurodegenerative disorder resulting in the loss of motor neurons from the spinal cord and frontal cortex. The patterns of neurodegeneration, affected regions, age of onset, and time course of disease progression are all highly variable between and within variants of the disease. Familial ALS (fALS), inherited versions of ALS due to genetic changes, accounts for between 5-20% of all ALS cases, while the rest are sporadic, with either no causative mutation identified or no familial history of ALS. Recently, the discovery of C9orf72 hexanuc
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Conference papers on the topic "GGGGCC repeats"

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Brčić, Jasna, and Janez Plavec. "NMR study of DNA oligonucleotides containing ALS/FTD associated GGGGCC repeat." In XVIth Symposium on Chemistry of Nucleic Acid Components. Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, 2014. http://dx.doi.org/10.1135/css201414236.

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