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Journal articles on the topic 'Triplet repeat diseases'

Author: Grafiati

Published: 19 October 2024

Last updated: 31 July 2025

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1

Pan, Feng, Pengning Xu, Christopher Roland, Celeste Sagui, and Keith Weninger. "Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases." Biomolecules 14, no. 10 (2024): 1278. http://dx.doi.org/10.3390/biom14101278.

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Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of triplets expands beyond a critical threshold. While the mechanisms causing the DNA triplet expansion are complex and remain largely unknown, it is now recognized that the expandable repeats lead to the formation of nucleotide configurations with atypical structural characteristics that play a crucial role in TREDs. These nonstandard nucleic acid

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2

Monckton, Darren G., and C. Thomas Caskey. "Unstable Triplet Repeat Diseases." Circulation 91, no. 2 (1995): 513–20. http://dx.doi.org/10.1161/01.cir.91.2.513.

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3

Jasinska, Anna J., Piotr Kozlowski, and Wlodzimierz J. Krzyzosiak. "Expression characteristics of triplet repeat-containing RNAs and triplet repeat-interacting proteins in human tissues." Acta Biochimica Polonica 55, no. 1 (2008): 1–8. http://dx.doi.org/10.18388/abp.2008_3090.

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Numerous human transcripts contain tandem repeats of trinucleotide motifs, the function of which remains unknown. In this study we used the available gene expression EST data to characterize the abundance of a large group of these transcripts in different tissues and determine the mRNAs which had the highest contribution to the observed levels of transcripts containing different types of the CNG repeats. A more extensive characteristics was performed for transcripts containing the CUG repeats, and those encoding the repeat-binding proteins. The scarcity of double-stranded CUG repeats as well a

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4

Bates, Gillian P., and Roman Gonitel. "Mouse Models of Triplet Repeat Diseases." Molecular Biotechnology 32, no. 2 (2006): 147–58. http://dx.doi.org/10.1385/mb:32:2:147.

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5

Gorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy, and John H. Wilson. "Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells." Molecular and Cellular Biology 23, no. 13 (2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.

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ABSTRACT Despite substantial progress in understanding the mechanism by which expanded CTG/CAG trinucleotide repeats cause neurodegenerative diseases, little is known about the basis for repeat instability itself. By taking advantage of a novel phenomenon, we have developed a selectable assay to detect contractions of CTG/CAG triplets. When inserted into an intron in the APRT gene or the HPRT minigene, long tracts of CTG/CAG repeats (more than about 33 repeat units) are efficiently incorporated into mRNA as a new exon, thereby rendering the encoded protein nonfunctional, whereas short repeat t

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6

Di Prospero, Nicholas A., and Kenneth H. Fischbeck. "Therapeutics development for triplet repeat expansion diseases." Nature Reviews Genetics 6, no. 10 (2005): 756–66. http://dx.doi.org/10.1038/nrg1690.

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7

Li, Rena, and Rif S. El-Mallakh. "Triplet Repeat Gene Sequences in Neuropsychiatric Diseases." Harvard Review of Psychiatry 5, no. 2 (1997): 66–74. http://dx.doi.org/10.3109/10673229709034729.

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8

Sinnreich, Michael, Eric J. Sorenson, and Christopher J. Klein. "Neurologic Course, Endocrine Dysfunction and Triplet Repeat Size in Spinal Bulbar Muscular Atrophy." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 31, no. 3 (2004): 378–82. http://dx.doi.org/10.1017/s0317167100003486.

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Objective:To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease).Methods:Twenty unrelated SBMApatients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were assessed (e.g. bulbar, asymmetric, proximal, distal, motor and sensory). Slopes of disease progression were calculated from serial quantified neurologic examinations. Patterns of neurologic involvement and course were correlated to the presence of diabetes, gynecomastia and tr

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9

Olejniczak, Marta, Martyna O. Urbanek, and Wlodzimierz J. Krzyzosiak. "The Role of the Immune System in Triplet Repeat Expansion Diseases." Mediators of Inflammation 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/873860.

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Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes. Expansion of CAG repeat tracts in translated regions of the respective genes results in polyglutamine- (polyQ-) rich proteins that form intracellular aggregates that affect numerous cellular activities. Recent evidence suggests the involvement of an RNA toxicity component in polyQ expansion disorders, thus increasing the complexity of the pathogenic processes. Neurodegeneration, accompanied by reactiv

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10

Servadio, Antonio, Angelo Poletti, Antonio Servadio, and Franco Taroni. "Triplet repeat diseases: from basic to clinical aspects." Brain Research Bulletin 56, no. 3-4 (2001): 159. http://dx.doi.org/10.1016/s0361-9230(01)00750-x.

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11

Galka-Marciniak, Paulina, Martyna O. Urbanek, and Wlodzimierz J. Krzyzosiak. "Triplet repeats in transcripts: structural insights into RNA toxicity." Biological Chemistry 393, no. 11 (2012): 1299–315. http://dx.doi.org/10.1515/hsz-2012-0218.

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Abstract Tandem repeats of various trinucleotide motifs are frequent entities in transcripts, and RNA structures formed by these sequences depend on the motif type and number of reiterations. The functions performed by normal triplet repeats in transcripts are poorly understood, but abnormally expanded repeats of certain types trigger pathogenesis in several human genetic disorders known as the triplet repeat expansion diseases (TREDs). The diseases caused by expanded non-coding CUG and CGG repeats in transcripts include myotonic dystrophy type 1 and fragile X-associated tremor ataxia syndrome

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12

Randall, Teri. "Triplet Repeat Mutations: Amplification Within Pedigrees Generates Three Human Diseases." JAMA: The Journal of the American Medical Association 269, no. 5 (1993): 558. http://dx.doi.org/10.1001/jama.1993.03500050016004.

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13

Randall, T. "Triplet repeat mutations: amplification within pedigrees generates three human diseases." JAMA: The Journal of the American Medical Association 269, no. 5 (1993): 558. http://dx.doi.org/10.1001/jama.269.5.558.

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14

Williams, Gregory M., Vasileios Paschalis, Janice Ortega та ін. "HDAC3 deacetylates the DNA mismatch repair factor MutSβ to stimulate triplet repeat expansions". Proceedings of the National Academy of Sciences 117, № 38 (2020): 23597–605. http://dx.doi.org/10.1073/pnas.2013223117.

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Trinucleotide repeat (TNR) expansions cause nearly 20 severe human neurological diseases which are currently untreatable. For some of these diseases, ongoing somatic expansions accelerate disease progression and may influence age of onset. This new knowledge emphasizes the importance of understanding the protein factors that drive expansions. Recent genetic evidence indicates that the mismatch repair factor MutSβ (Msh2-Msh3 complex) and the histone deacetylase HDAC3 function in the same pathway to drive triplet repeat expansions. Here we tested the hypothesis that HDAC3 deacetylates MutSβ and

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15

Gonzalez-Alegre, Pedro. "Recent advances in molecular therapies for neurological disease: triplet repeat disorders." Human Molecular Genetics 28, R1 (2019): R80—R87. http://dx.doi.org/10.1093/hmg/ddz138.

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AbstractTriplet repeat diseases (TRDs) are caused by pathogenic expansions of trinucleotide sequence repeats within coding and non-coding regions of different genes. They are typically progressive, very disabling and frequently involve the nervous system. Currently available symptomatic therapies provide modest benefit at best. The development of interventions that interfere with the natural history of these diseases is a priority. A common pathogenic process shared by most TRDs is the presence of toxicity from the messenger RNA or protein encoded by the gene harboring the abnormal expansion.

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16

Nahalka, Jozef. "1-L Transcription in Prion Diseases." International Journal of Molecular Sciences 25, no. 18 (2024): 9961. http://dx.doi.org/10.3390/ijms25189961.

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Understanding the pathogenesis and mechanisms of prion diseases can significantly expand our knowledge in the field of neurodegenerative diseases. Prion biology is increasingly recognized as being relevant to the pathophysiology of Alzheimer’s disease and Parkinson’s disease, both of which affect millions of people each year. This bioinformatics study used a theoretical protein-RNA recognition code (1-L transcription) to reveal the post-transcriptional regulation of the prion protein (PrPC). The principle for this method is directly elucidated on PrPC, in which an octa-repeat can be 1-L transc

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17

Truant, Ray, Lynn A. Raymond, Jianrun Xia, Deborah Pinchev, Anjee Burtnik, and Randy Singh Atwal. "Canadian Association of Neurosciences Review: Polyglutamine Expansion Neurodegenerative Diseases." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 33, no. 3 (2006): 278–91. http://dx.doi.org/10.1017/s031716710000514x.

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ABSTRACT:Since the early 1990s, DNA triplet repeat expansions have been found to be the cause in an ever increasing number of genetic neurologic diseases. A subset of this large family of genetic diseases has the expansion of a CAG DNA triplet in the open reading frame of a coding exon. The result of this DNA expansion is the expression of expanded glutamine amino acid repeat tracts in the affected proteins, leading to the term, Polyglutamine Diseases, which is applied to this sub-family of diseases. To date, nine distinct genes are known to be linked to polyglutamine diseases, including Hunti

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18

Völker, Plum, Gindikin, and Breslauer. "Dynamic DNA Energy Landscapes and Substrate Complexity in Triplet Repeat Expansion and DNA Repair." Biomolecules 9, no. 11 (2019): 709. http://dx.doi.org/10.3390/biom9110709.

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DNA repeat domains implicated in DNA expansion diseases exhibit complex conformational and energy landscapes that impact biological outcomes. These landscapes include ensembles of entropically driven positional interchanges between isoenergetic, isomeric looped states referred to as rollamers. Here, we present evidence for the position-dependent impact on repeat DNA energy landscapes of an oxidative lesion (8oxodG) and of an abasic site analogue (tetrahydrofuran, F), the universal intermediate in base excision repair (BER). We demonstrate that these lesions modulate repeat bulge loop distribut

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19

Kelley, Karen, Shin-Ju E. Chang, and Shi-Lung Lin. "Mechanism of Repeat-Associated MicroRNAs in Fragile X Syndrome." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/104796.

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The majority of the human genome is comprised of non-coding DNA, which frequently contains redundant microsatellite-like trinucleotide repeats. Many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs) such as fragile X syndrome (FXS). After transcription, the trinucleotide repeats can fold into RNA hairpins and are further processed byDicerendoribonuclases to form microRNA (miRNA)-like molecules that are capable of triggering targeted gene-silencing effects in the TREDs. However, the function of these repeat-associated miRNAs (ramRNAs) is unclear. To solve

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20

Bhattacharyya, Saumitri, Michael L. Rolfsmeier, Michael J. Dixon, Kara Wagoner, and Robert S. Lahue. "Identification of RTG2 as a Modifier Gene for CTG·CAG Repeat Instability in Saccharomyces cerevisiae." Genetics 162, no. 2 (2002): 579–89. http://dx.doi.org/10.1093/genetics/162.2.579.

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Abstract Trinucleotide repeats (TNRs) undergo frequent mutations in families affected by TNR diseases and in model organisms. Much of the instability is conferred in cis by the sequence and length of the triplet tract. Trans-acting factors also modulate TNR instability risk, on the basis of such evidence as parent-of-origin effects. To help identify trans-acting modifiers, a screen was performed to find yeast mutants with altered CTG·CAG repeat mutation frequencies. The RTG2 gene was identified as one such modifier. In rtg2 mutants, expansions of CTG·CAG repeats show a modest increase in rate,

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21

Volker, J., N. Makube, G. E. Plum, H. H. Klump, and K. J. Breslauer. "Conformational energetics of stable and metastable states formed by DNA triplet repeat oligonucleotides: Implications for triplet expansion diseases." Proceedings of the National Academy of Sciences 99, no. 23 (2002): 14700–14705. http://dx.doi.org/10.1073/pnas.222519799.

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22

Hasan, Qurratulain, Ravindra Varma Alluri, Pragna Rao, and Yog Raj Ahuja. "Role of Glutamine Deamidation in Neurodegenerative Diseases Associated With Triplet Repeat Expansions: A Hypothesis." Journal of Molecular Neuroscience 29, no. 1 (2006): 29–34. http://dx.doi.org/10.1385/jmn:29:1:29.

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23

Hoffman-Zacharska, Dorota, and Anna Sulek. "The New Face of Dynamic Mutation—the CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17." International Journal of Molecular Sciences 25, no. 15 (2024): 8190. http://dx.doi.org/10.3390/ijms25158190.

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Since 1991, several genetic disorders caused by unstable trinucleotide repeats (TNRs) have been identified, collectively referred to as triplet repeat diseases (TREDs). They share a common mutation mechanism: the expansion of repeats (dynamic mutations) due to the propensity of repeated sequences to form unusual DNA structures during replication. TREDs are characterized as neurodegenerative diseases or complex syndromes with significant neurological components. Spinocerebellar ataxia type 17 (SCA17) falls into the former category and is caused by the expansion of mixed CAA/CAG repeats in the T

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24

Shen, Tao, Yukari Nagai, M. Udayakumar, et al. "Automated Genomic Signal Processing for Diseased Gene Identification." Journal of Medical Imaging and Health Informatics 9, no. 6 (2019): 1254–61. http://dx.doi.org/10.1166/jmihi.2019.2726.

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Genomic signal processing (GSP) is the engineering discipline for the analysis, processing, and use of genomic signals to gain biological knowledge, and the translation of that knowledge into systems-based applications that can be used to diagnose and treat genetic diseases. Statistical Computations on DNA Sequences is one of key areas in which GSP can be applied. In this paper, we apply DSP tools on trinucleotide repeat disorders (too many copies of a certain nucleotide triplet in the DNA) to classify any gene sequence into diseased/non-diseased state. Intially, we collected the Gene sequence

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25

Raaijmakers, Renée H. L., Lise Ripken, C. Rosanne M. Ausems, and Derick G. Wansink. "CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities." International Journal of Molecular Sciences 20, no. 15 (2019): 3689. http://dx.doi.org/10.3390/ijms20153689.

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CRISPR/Cas technology holds promise for the development of therapies to treat inherited diseases. Myotonic dystrophy type 1 (DM1) is a severe neuromuscular disorder with a variable multisystemic character for which no cure is yet available. Here, we review CRISPR/Cas-mediated approaches that target the unstable (CTG•CAG)n repeat in the DMPK/DM1-AS gene pair, the autosomal dominant mutation that causes DM1. Expansion of the repeat results in a complex constellation of toxicity at the DNA level, an altered transcriptome and a disturbed proteome. To restore cellular homeostasis and ameliorate DM1

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26

KIMMEL, MAREK. "WHY MATHEMATICS IS NEEDED TO UNDERSTAND COMPLEX GENETICS DISEASES." Journal of Biological Systems 10, no. 04 (2002): 359–80. http://dx.doi.org/10.1142/s0218339002000688.

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We discuss mathematical approaches to population genetics and evolutionary theory in the context of complex genetic disease. Mechanisms, which we discuss, include gene-environment interaction in lung cancer as well as classical mechanisms of stabilization of genetic disease such as overdominance, antagonistic pleiotropy and recurring mutations. Specific modeling approaches discussed include: (1) Mathematical model of the evolution of disease chromosome applied to mapping of a disease gene. (2) Iterated Galton–Watson branching process applied to modeling of trinucleotide expansion in triplet-re

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27

Wells, Robert D., Pawel Parniewski, Anna Pluciennik, Albino Bacolla, Robert Gellibolian, and Adam Jaworski. "Small Slipped Register Genetic Instabilities inEscherichia coliin Triplet Repeat Sequences Associated with Hereditary Neurological Diseases." Journal of Biological Chemistry 273, no. 31 (1998): 19532–41. http://dx.doi.org/10.1074/jbc.273.31.19532.

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28

Shimizu, M., R. Fujita, N. Tomita, H. Shindo, and R. D. Wells. "Chromatin structure of yeast minichromosomes containing triplet repeat sequences associated with human hereditary neurological diseases." Nucleic Acids Symposium Series 1, no. 1 (2001): 71–72. http://dx.doi.org/10.1093/nass/1.1.71.

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29

Matsuo, Kazuya, Susumu Ikenoshita, Yasushi Yabuki, et al. "Development of a mutant allele-specific transcriptional repressive agent in CAG/CTG triplet repeat diseases." Proceedings for Annual Meeting of The Japanese Pharmacological Society 96 (2022): YIA08–1. http://dx.doi.org/10.1254/jpssuppl.96.0_yia08-1.

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30

Huntley, Melanie A., Sanaa Mahmood, and G. Brian Golding. "Simple sequence in brain and nervous system specific proteins." Genome 48, no. 2 (2005): 291–301. http://dx.doi.org/10.1139/g04-124.

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We examined sequences expressed in the brain and nervous system using EST data. A previous study including sequences thought to have neurological function found a deficiency of simple sequence within such sequences. This was despite many examples of neurodegenerative diseases, such as Huntington disease, which are thought to be caused by expansions of polyglutamine tracts within associated protein sequences. It may be that many of the sequences thought to have neurological function have other additional, non-neurological roles. For this reason, we examined sequences with specific expression in

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31

Kawakubo, Kosuke, Susumu Ikenoshita, Kazuya Matsuo, et al. "Therapeutic targeting expanded DNA using cyclic pyrrole-imidazole polyamide in CAG/CTG triplet repeat neurological diseases." Proceedings for Annual Meeting of The Japanese Pharmacological Society 95 (2022): 1—SS—27. http://dx.doi.org/10.1254/jpssuppl.95.0_1-ss-27.

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32

Hou, M. H. "Crystal structure of actinomycin D bound to the CTG triplet repeat sequences linked to neurological diseases." Nucleic Acids Research 30, no. 22 (2002): 4910–17. http://dx.doi.org/10.1093/nar/gkf619.

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33

Volker, J., H. H. Klump, and K. J. Breslauer. "DNA energy landscapes via calorimetric detection of microstate ensembles of metastable macrostates and triplet repeat diseases." Proceedings of the National Academy of Sciences 105, no. 47 (2008): 18326–30. http://dx.doi.org/10.1073/pnas.0810376105.

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34

SERMON, K. "PGD in the lab for triplet repeat diseases ? myotonic dystrophy, Huntington's disease and Fragile-X syndrome." Molecular and Cellular Endocrinology 183 (October 2001): S77—S85. http://dx.doi.org/10.1016/s0303-7207(01)00572-x.

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35

Maduro, Maria Rosa, Roberto Casella, Alex G. Smith, and Dolores J. Lamb. "Increased incidence of triplet repeat diseases expanded alleles in azoospermic men: a new concern for ICSI?" Fertility and Sterility 78 (September 2002): S32. http://dx.doi.org/10.1016/s0015-0282(02)03465-9.

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36

White, Peter J., Rhona H. Borts, and Mark C. Hirst. "Stability of the Human Fragile X (CGG)n Triplet Repeat Array inSaccharomyces cerevisiae Deficient in Aspects of DNA Metabolism." Molecular and Cellular Biology 19, no. 8 (1999): 5675–84. http://dx.doi.org/10.1128/mcb.19.8.5675.

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ABSTRACT Expanded trinucleotide repeats underlie a growing number of human diseases. The human FMR1 (CGG) n array can exhibit genetic instability characterized by progressive expansion over several generations leading to gene silencing and the development of the fragile X syndrome. While expansion is dependent upon the length of uninterrupted (CGG) n , instability occurs in a limited germ line and early developmental window, suggesting that lineage-specific expression of other factors determines the cellular environment permissive for expansion. To identify these factors, we have established n

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37

Liu, Yuan, Haihua Zhang, Janaki Veeraraghavan, Robert A. Bambara, and Catherine H. Freudenreich. "Saccharomyces cerevisiae Flap Endonuclease 1 Uses Flap Equilibration To Maintain Triplet Repeat Stability." Molecular and Cellular Biology 24, no. 9 (2004): 4049–64. http://dx.doi.org/10.1128/mcb.24.9.4049-4064.2004.

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ABSTRACT Flap endonuclease 1 (FEN1) is a central component of Okazaki fragment maturation in eukaryotes. Genetic analysis of Saccharomyces cerevisiae FEN1 (RAD27) also reveals its important role in preventing trinucleotide repeat (TNR) expansion. In humans such expansion is associated with neurodegenerative diseases. In vitro, FEN1 can inhibit TNR expansion by employing its endonuclease activity to compete with DNA ligase I. Here we employed two yeast FEN1 nuclease mutants, rad27-G67S and rad27-G240D, to further define the mechanism by which FEN1 prevents TNR expansion. Using a yeast artificia

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38

Saido, T. C. "Involvement of polyglutamine endolysis followed by pyroglutamate formation in the pathogenesis of triplet repeat/polyglutamine-expansion diseases." Medical Hypotheses 54, no. 3 (2000): 427–29. http://dx.doi.org/10.1054/mehy.1999.0866.

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39

Thirugnanasambandam, Arunachalam, Selvam Karthik, Pradeep Kumar Mandal, and Namasivayam Gautham. "The novel double-folded structure of d(GCATGCATGC): a possible model for triplet-repeat sequences." Acta Crystallographica Section D Biological Crystallography 71, no. 10 (2015): 2119–26. http://dx.doi.org/10.1107/s1399004715013930.

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The structure of the decadeoxyribonucleotide d(GCATGCATGC) is presented at a resolution of 1.8 Å. The decamer adopts a novel double-folded structure in which the direction of progression of the backbone changes at the two thymine residues. Intra-strand stacking interactions (including an interaction between the endocylic O atom of a ribose moiety and the adjacent purine base), hydrogen bonds and cobalt-ion interactions stabilize the double-folded structure of the single strand. Two such double-folded strands come together in the crystal to form a dimer. Inter-strand Watson–Crick hydrogen bonds

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40

Fischer, K. M. "Etiology of (CAG)n triplet repeat neurodegenerative diseases such as Huntington's disease is connected to stimulation of glutamate receptors." Medical Hypotheses 48, no. 5 (1997): 393–98. http://dx.doi.org/10.1016/s0306-9877(97)90034-7.

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41

Freudenreich, C. H., J. B. Stavenhagen, and V. A. Zakian. "Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome." Molecular and Cellular Biology 17, no. 4 (1997): 2090–98. http://dx.doi.org/10.1128/mcb.17.4.2090.

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Trinucleotide repeat expansion is the causative mutation for a growing number of diseases including myotonic dystrophy, Huntington's disease, and fragile X syndrome. A (CTG/CAG)130 tract cloned from a myotonic dystrophy patient was inserted in both orientations into the genome of Saccharomyces cerevisiae. This insertion was made either very close to the 5' end or very close to the 3' end of a URA3 transcription unit. Regardless of its orientation, no evidence was found for triplet-mediated transcriptional repression of the nearby gene. However, the stability of the tract correlated with its or

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42

Bichara, M., S. Schumacher, and R. P. Fuchs. "Genetic instability within monotonous runs of CpG sequences in Escherichia coli." Genetics 140, no. 3 (1995): 897–907. http://dx.doi.org/10.1093/genetics/140.3.897.

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Abstract Genetic information can be altered by base substitutions, frameshift mutations, and addition or deletion of nucleotides. Deletions represent an important class of genetic aberration occurring at DNA sequences where it is often possible to predict the existence of intermediates of mutation. Instability within tracts of repetitive sequence have recently been associated with several genetic disorders, including the so-called triplet repeat diseases and certain forms of colorectal cancers. In Escherichia coli, (GpC)n repetitive sequences have been shown to be deletion prone, but the preci

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43

Szwarocka, Sylwia T., Paweł Stączek, and Paweł Parniewski. "Chromosomal model for analysis of a long CTG/CAG tract stability in wild-type Escherichia coli and its nucleotide excision repair mutants." Canadian Journal of Microbiology 53, no. 7 (2007): 860–68. http://dx.doi.org/10.1139/w07-047.

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Many human hereditary neurological diseases, including fragile X syndrome, myotonic dystrophy, and Friedreich’s ataxia, are associated with expansions of the triplet repeat sequences (TRS) (CGG/CCG, CTG/CAG, and GAA/TTC) within or near specific genes. Mechanisms that mediate mutations of TRS include DNA replication, repair, and gene conversion and (or) recombination. The involvement of the repair systems in TRS instability was investigated in Escherichia coli on plasmid models, and the results showed that the deficiency of some nucleotide excision repair (NER) functions dramatically affects th

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44

Lee, Suman, and Min S. Park. "Human FEN-1 can process the 5'-flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner." Experimental & Molecular Medicine 34, no. 4 (2002): 313–17. http://dx.doi.org/10.1038/emm.2002.44.

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45

Shimada, Makoto K. "Splicing Modulators Are Involved in Human Polyglutamine Diversification via Protein Complexes Shuttling between Nucleus and Cytoplasm." International Journal of Molecular Sciences 24, no. 11 (2023): 9622. http://dx.doi.org/10.3390/ijms24119622.

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Length polymorphisms of polyglutamine (polyQs) in triplet-repeat-disease-causing genes have diversified during primate evolution despite them conferring a risk of human-specific diseases. To explain the evolutionary process of this diversification, there is a need to focus on mechanisms by which rapid evolutionary changes can occur, such as alternative splicing. Proteins that can bind polyQs are known to act as splicing factors and may provide clues about the rapid evolutionary process. PolyQs are also characterized by the formation of intrinsically disordered (ID) regions, so I hypothesized t

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46

Девяткина, Е. А., В. Д. Назаров, Д. В. Сидоренко та ін. "Клиническое значение определения размеров нуклеотидной экспансии гена HTT у пациентов с болезнью Гентингтона". Nauchno-prakticheskii zhurnal «Medicinskaia genetika 23, № 4 (2024): 25–37. http://dx.doi.org/10.25557/2073-7998.2024.04.25-37.

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Цель: описание клинической значимости определения числа CAG-повторов в экзоне 1 гена HTT у пациентов с болезнью Гентингтона в Российской Федерации. Методы. В исследование были включены образцы ДНК 1290 человек, обследованных для уточнения количества CAG-повторов в гене HTT в лаборатории диагностики аутоиммунных заболеваний НМЦ Минздрава России по молекулярной медицине ПСПбГМУ имени акад. И.П. Павлова. От каждого обследованного было получено информированное добровольное согласие. Всем обследованным было проведено исследование количества CAG-повторов в гене HTT методом ПЦР с праймингом тройных п

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McDonough, Paul G. "Triple repeat diseases and unstable gonadal function." Fertility and Sterility 88, no. 5 (2007): 1477–78. http://dx.doi.org/10.1016/j.fertnstert.2007.07.021.

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Pastore, Lisa M., JoAnn V. Pinkerton, and Christopher D. Williams. "Triple repeat diseases and unstable gonadal function." Fertility and Sterility 88, no. 5 (2007): 1477. http://dx.doi.org/10.1016/j.fertnstert.2007.07.023.

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Wittenberger, Michael D., and Lawrence M. Nelson. "Reply: Triple repeat diseases and unstable gonadal function." Fertility and Sterility 88, no. 5 (2007): 1477. http://dx.doi.org/10.1016/j.fertnstert.2007.07.022.

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TSUJI, Shoji. "Molecular Genetics of Triplet Repeats: Unstable Expansion of Triplet Repeats as a New Mechanism for Neurodegenerative Diseases." Internal Medicine 36, no. 1 (1997): 3–8. http://dx.doi.org/10.2169/internalmedicine.36.3.

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