Search Results - "АНТИСМЫСЛОВЫЕ ОЛИГОНУКЛЕОТИДЫ"

1

Academic Journal

Effective in vitro inhibition of herpes simplex virus type 1 replication by oligonucleotide-containing nanocomposites ; Эффективное ингибирование репликации вируса простого герпеса 1-го типа in vitro с помощью олигонуклеотид-содержащих нанокомпозитов

Authors: M. N. Repkova, V. F. Zarytova, O. Yu. Mazurkov, N. A. Mazurkova, E. V. Makarevich, E. I. Filippova, M. D. Nekrasov, M. S. Kupryushkin, A. S. Levina, М. Н. Репкова, В. Ф. Зарытова, О. Ю. Мазурков, Н. А. Мазуркова, Е. В. Макаревич, Е. И. Филиппова, М. Д. Некрасов, М. С. Купрюшкин, А. С. Левина

Contributors: The research was funded by the Russian Science Foundation, project number 23-24-00184., Исследование выполнено при финансовой поддержке Российского научного фонда (проект №23-24-00184).

Source: Vestnik Moskovskogo universiteta. Seriya 16. Biologiya; Том 79, № 4 (2024); 338-345 ; Вестник Московского университета. Серия 16. Биология; Том 79, № 4 (2024); 338-345 ; 0137-0952

Subject Terms: вирус простого герпеса, antisense oligonucleotides, TiO2 nanoparticles (anatase), antiviral effect, herpes simplex virus, антисмысловые олигонуклеотиды, TiO2-наночастицы (анатаз), противовирусный эффект

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Relation: https://vestnik-bio-msu.elpub.ru/jour/article/view/1442/707; Belikova A.M., Zarytova V.F., Grineva N.I. Synthesis of ribonucleosides and diribonucleoside phosphates containing 2-chloroethylamine and nitrogen mustard residues. Tetrahedron Lett. 1967;8(37):3557–3562.; Zamecnik P., Stephenson M. Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide. Proc. Natl. Acad. Sci. U.S.A. 1978;75(1):280–284.; Amado D.A., Davidson B.L. Gene therapy for ALS: A review. Mol. Ther. 2021;29(12):3345–3358.; Kulkarni J.A., Witzigmann D., Chen S., Cullis P.R., van der Meel R. Lipid nanoparticle technology for clinical translation of siRNA therapeutics. Acc. Chem. Res. 2019;52(9):2435–2444.; Draper K.G., Ecker D.J., Mirabelli C.K., Crooke S.T. Oligonucleotide therapies for modulating the effects of herpesviruses. Patent US 6310044 B1, 2001;30.10.2001.; Eide K., Moerdyk-Schauwecker M., Stein D.A., Bildfell R., Koelle D.M., Jin L. Reduction of herpes simplex virus type-2 replication in cell cultures and in rodent models with peptide-conjugated morpholino oligomers. Antivir. Ther. 2010;15(8):1141–1149.; Moerdyk-Schauwecker M., Stein D.A., Eide K., Blouch R.E., Bildfell R., Iversen P., Jin L. Inhibition of HSV-1 ocular infection with morpholino oligomers targeting ICP0 and ICP27. Antiviral Res. 2009;84(2):131–141.; Weng Y., Huang Q., Li C., Yang Y., Wang X., Yu J., Huang Y., Liang X.J. Improved nucleic acid therapy with advanced nanoscale biotechnology. Mol. Ther. Nucleic Acids 2020;19(1):581–601.; Haghighi F.H., Mercurio M., Cerra S., Salamone T.A., Bianymotlagh R., Palocci C., Spica V.R., Fratoddi I. Surface modification of TiO 2 nanoparticles with organic molecules and their biological applications. J. Mater. Chem. B. 2023;11(11):2334–2366.; Chelobanov B.P., Repkova M.N., Bayborodin S.I., Ryabchikova E.I., Stetsenko D.A. Nuclear delivery of oligonucleotides via nanocomposites based on TiO2 nanoparticles and polylysine. Mol. Biol. (Mosс.). 2017;51(5):797–808.; Levina A.S., Repkova M.N., Shatskaya N.V., Zarytova V.F., Ismagilov Z.R., Shikina N.V., Zagrebelnyi S.N., Baiborodin S.I. Design of TiO2~DNA nanocomposites for penetration into cells. Russ. J. Bioorg. Chem. 2013;39(1):77–86.; Zharkov T.D., Markov O.V., Zhukov S.A., Khodyreva S.N., Kupryushkin M.S. Influence of combinations of lipophilic and phosphate backbone modifications on cellular uptake of modified oligonucleotides. Molecules. 2024;29(2):452.; Osano E., Kishi J., Takahashi Y. Phagocytosis of titanium particles and necrosis in TNF-alpha-resistant mouse sarcoma L929 cells. Toxicol. In Vitro. 2003;17(1):41–47.; Smee D.F., Morrison A.C., Barnard D.L., Sidwell R.W. Comparison of colorimetric and visual methods for determining anti-influenza (H1N1 and H3N2) virus activities and toxicities of compounds. J. Virol. Methods. 2002;106(1):71–79.; Levina A.S., Repkova M.N., Bessudnova E.V., Filippova E.I., Zarytova V.F. High antiviral effect of TiO2·PL-DNA nanocomposites targeted to conservative regions of (-)RNA and (+)RNA of influenza A virus in cell culture. Beilstein J. Nanotechnol. 2016;7(4):1166–1173.; Levina A., Repkova M., Shikina N., Ismagilov Z., Kupryushkin M., Pavlova A., Mazurkova N., Pyshnyi D., Zarytova V. Pronounced therapeutic potential of oligonucleotides fixed on inorganic nanoparticles against highly pathogenic H5N1 influenza A virus in vivo. Eur. J. Pharm. Biopharm. 2021;162:92–98.; Repkova M.N., Levina A.S., Ismagilov Z R., Mazurkova N.A., Mazurkov O.Ju., Zarytova V.F. Effective inhibition of newly emerged A/H7N9 virus with oligonucleotides targeted to conserved regions of the virus genome. Nucleic Acid Ther. 2021;31(6):436–442.; Repkova M.N., Levina A.S., Seryapina A.A., Shikina N.V., Bessudnova E.V., Zarytova V.F., Markel A.L. Toward gene therapy of hypertension: experimental study on hypertensive ISIAH rats. Biochemistry (Mosc.). 2017;82(4):454–457.; Shen X., Corey D.R. Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs. Nucleic Acids Res. 2018;46(4):1584–1600.; Levina A.S., Repkova M.N., Zarytova V.F. Therapeutic nucleic acids against Herpes simplex viruses (a review). Russ. J. Bioorg. Chem. 2023;49(6):1243–1262.; Shoji Y., Norimatsu M., Shimada J., Mizushima Y. Limited use of cationic liposomes as tools to enhance the antiherpetic activities of oligonucleotides in Vero cells infected with herpes simplex virus Type 1. Antisense Nucleic Acid Drug Dev. 1998;8(4):255–263.; Birch-Hirschfeld E., Knorre C.M., Stelzner A., Schmidtke M. Antiviral activity of antisense oligonucleotides against various targets of herpes simplex virus 1 (Hsv1) and Coxsackievirus B3 (Cvb3) genome. Nucleos. Nucleot. 1997;16(5–6):623–628.; Blumenfeld M., Meguenni S., Poddevin B., Vasseur M. Antisense oligonucleotides against herpes simplex virus types 1 and 2. Patent WO1995004141A1, 1995;09.02.1995.; Hoke G.D., Draper K., Freier S.M., Gonzalez C., Driver V.B., Zounes M.C., Ecker D.J. Effects of phosphorothioate capping on antisense oligonucleotide stability, hybridization and antiviral efficacy versus herpes simplex virus infection. Nucleic Acids Res. 1991;19(20):5743–5748.; Shoji Y., Ishige H., Tamura N., Iwatani W., Norimatsu M., Shimada J., Mizushima Y. Enhancement of anti-Herpetic activity of antisense phosphorothioate oligonucleotides 5’-end modified with geraniol. J. Drug Target. 1998;5(4):261–273.; Vinogradov S.V., Suzdaltseva Y., Alakhov V.Y., Kabanov A.V. Inhibition of herpes simplex virus 1 reproduction with hydrophobized antisense oligonucleotides. Biochem. Biophys. Res. Commun. 1994;203(2):959–966.; Miroshnichenko S.K., Patutina O.A., Burakova E.A., Chelobanov B.P., Fokina A.A., Vlassov V.V., Altman S., Zenkova M.A., Stetsenko D.A. Mesyl phosphoramidate antisense oligonucleotides as an alternative to phosphorothioates with improved biochemical and biological properties. Proc. Natl. Acad. Sci. U.S.A. 2019;116(4):1229–1234.; Kandasamy P., McClorey G., Shimizu M., et al. Control of backbone chemistry and chirality boost oligonucleotide splice switching activity. Nucleic Acids Res. 2022;50(10):5443–5466.

Availability: https://vestnik-bio-msu.elpub.ru/jour/article/view/1442
https://doi.org/10.55959/MSU0137-0952-16-79-4-14

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2

Academic Journal

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies ; Эффективность и безопасность Вилтепсо® при миодистрофии Дюшенна: обзор клинических исследований

Authors: V. M. Suslov, D. I. Rudenko, В. М. Суслов, Д. И. Руденко

Source: Russian Journal of Child Neurology; Том 19, № 3 (2024); 38-50 ; Русский журнал детской неврологии; Том 19, № 3 (2024); 38-50 ; 2412-9178 ; 2073-8803

Subject Terms: вилтоларсен, exon skipping, antisense oligonucleotides, Viltepso®, viltolarsen, экзон-скиппинг, антисмысловые олигонуклеотиды, Вилтепсо®

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Relation: https://rjdn.abvpress.ru/jour/article/view/485/329; Мышечная дистрофия Дюшенна. Мышечная дистрофия Беккера. Клинические рекомендации. М.: Минздрав России, 2023.; Поляков А.В. Современные возможности диагностики мышечной дистрофии Дюшенна. VI Всероссийский научно-практический конгресс с международным участием «Орфанные болезни», 2024.; Angulski A.B.B, Hosny N., Cohe H. et al. Duchenne muscular dystrophy: Disease mechanism and therapeutic strategies. Front Physiol 2023;14:1183101. DOI:10.3389/fphys.2023.1183101; Birnkrant D.J., Bushby K., Bann C.M. et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17(3):251–67. DOI:10.1016/S1474-4422(18)30024-3; Clemens P.R., Rao V.K., Connolly A.M. et al. Efficacy and safety of viltolarsen in boys with Duchenne muscular dystrophy: Results from the phase 2, open-label, 4-year extension study. J Neuromuscul Dis 2023;10(3):439–47. DOI:10.3233/JND-221656; Clemens P.R., Rao V.K., ConnollyA.M. et al. Long-term functional efficacy and safety of viltolarsen in patients with Duchenne muscular dystrophy. J Neuromuscular Dis 2022;9:493–501. DOI:10.3233/JND-220811; Clemens P.R., Rao V.K., Connolly A.M. et al. Safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping: A phase 2 randomized clinical trial. JAMA Neurol 2020;77(8):982–91. DOI:10.1001/jamaneurol.2020.1264; FDA Approves Targeted Treatment for Rare Duchenne Muscular Dystrophy Mutation. Available at: https://www.fda.gov/newsevents/press-announcements/fda-approves-targeted-treatmentrare-duchenne-muscular-dystrophy-mutation.; Gissel H. The role of Ca2+ in muscle cell damage. Ann NY Acad Sci 2005;1066:166–80. DOI:10.1196/annals.1363.013; Hoffman E.P., Fischbeck K.H., Brown R.H. et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N Engl J Med 1988;318(21):1363–8. DOI:10.1056/NEJM198805263182104; Iwata Y., Katanosaka Y., Shijun Z. et al. Protective effects of Ca2+ handling drugs against abnormal Ca2+ homeostasis and cell damage in myopathic skeletal muscle cells. Biochem Pharmacol 2005;70(5):740–51. DOI:10.1016/j.bcp.2005.05.034; Flanigan K.M. Duchenne and Becker muscular dystrophies. Neurol Clin 2014;32:671–88. DOI:10.1016/j.ncl.2014.05.002; Komaki H., Nagata T., Saito T. et al. Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Sci Transl Med 2018;10(437):eaan0713. DOI:10.1126/scitranslmed.aan0713; Researcher View. Safety and Dose Finding Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD). Available at: https://clinicaltrials.gov/study/NCT02740972?tab=table.; Roshmi R.R., Yokota T. Viltolarsen for the treatment of Duchenne muscular dystrophy. Drugs Today (Barc) 2019;55(10):627–39. DOI:10.1358/dot.2019.55.10.3045038; Study Details. Exploratory Study of NS-065/NCNP-01 in DMD. Available at: https://clinicaltrials.gov/study/NCT02081625?intr=NS-065%2FNCNP-01&rank=2.; Study Details. Extension Study of NS-065/NCNP-01 in Boys with Duchenne Muscular Dystrophy (DMD). Available at: https://clinicaltrials.gov/study/NCT03167255?term=NCT03167255&rank=1.; Van den Bergen J.C., Wokke B.H., Janson A.A. et al. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J Neurol Neurosurg Psychiatry 2014;85(7):747–53. DOI:10.1136/jnnp-2013-306350; https://rjdn.abvpress.ru/jour/article/view/485

Availability: https://rjdn.abvpress.ru/jour/article/view/485
https://doi.org/10.17650/2073-8803-2024-19-3-38-50

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3

Academic Journal

Experience with exon 45 skipping therapy in patients with Duchenne muscular dystrophy ; Опыт применения терапии пропуском экзона 45 у пациентов с прогрессирующей мышечной дистрофией Дюшенна

Authors: S. B. Artemyeva, E. D. Belousova, D. V. Vlodavets, L. M. Kuzenkova, S. V. Mikhailova, T. V. Podkletnova, S. G. Popovich, E. V. Uvakina, E. L. Usacheva, С. Б. Артемьева, Е. Д. Белоусова, Д. В. Влодавец, Л. М. Кузенкова, С. В. Михайлова, Т. В. Подклетнова, С. Г. Попович, Е. В. Увакина, Е. Л. Усачева

Contributors: The study was performed without external funding, Исследование проведено без спонсорской поддержки

Source: Medical Genetics; Том 23, № 1 (2024); 19-25 ; Медицинская генетика; Том 23, № 1 (2024); 19-25 ; 2073-7998

Subject Terms: антисмысловые олигонуклеотиды, muscular dystrophy, Duchenne muscular dystrophy, exon skipping, casimersen, antisense oligonucleotides, мышечная дистрофия, ПМД Дюшенна, экзон-скиппинг, касимерсен

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Relation: https://www.medgen-journal.ru/jour/article/view/2407/1764; Drousiotou A., Ioannou P., Georgiou T., et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet Test 1998; 2: 55–60.; Emery A.E. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord 1991; 1: 19–29.; Duan D., Goemans N., Takeda S., Mercuri E., Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):13. doi:10.1038/s41572-021-00248-3.; Happi Mbakam C., Lamothe G., Tremblay J.P. Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy. Front Med (Lausanne). 2022;9:859930. doi:10.3389/fmed.2022.859930; Hoffman E.P., Brown R.H. Jr, Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919–28.; Клинические рекомендации «Прогрессирующая мышечная дистрофия Дюшенна. Прогрессирующая мышечная дистрофия Беккера». https://cr.minzdrav.gov.ru/schema/773.; Poysky J., Behavior in DMD Study Group. Behavior patterns in Duchenne muscular dystrophy: report on the Parent Project Muscular Dystrophy behavior workshop 8–9 of December 2006, Philadelphia, USA. Neuromuscul Disord 2007; 17: 986–94.; Ryder S., Leadley R.M., Armstrong N., et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.; Coratti G., Pane M., Brogna C., et al. North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS One. 2021;16(6):e0253882. doi:10.1371/journal.pone.0253882; de Feraudy Y., Ben Yaou R., Wahbi K., et al.Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy. Ann Neurol. 2021;89(2):280-292. doi:10.1002/ana.25951.; Shirley M. Casimersen: First Approval. Drugs. 2021;81(7):875-879. doi:10.1007/s40265-021-01512-2.; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. World Muscle Society Congress 2022. Neuromuscular Disorders 32 (2022) S42–S136. doi:10.1016/j.nmd.2022.07.248.; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the Muscular Dystrophy Association Clinical & Scientific Conference, March 13–16, 2022, Nashville, TN. https://investorrelations.sarepta.com/static-files/d6ad5b34-752b-4d8b-ba15-bfa88394296f Access date 18. 12. 2023; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the 27 th International Hybrid Annual Congress of the World Muscle Society; October 11–15, 2021; Halifax, Nova Scotia, Canada. Neuromuscular Disorders 31 (2021) S47–S162. doi:10.1016/j.nmd.2021.07.175; Iannaccone S. et al. Casimersen in Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping: Interim Results From the Phase 3 ESSENCE Trial. Presented at the Muscular Dystrophy Association Clinical & Scientific Conference, March 12–22, 2023, Dallas, TX & Virtual. https://www.mdaconference.org/abstract-library/casimersen-in-patients-with-duchenne-muscular-dystrophy-amenable-to-exon-45-skipping-interim-results-from-the-phase-3-essence-trial/ Access date 18. 12. 2023; Wagner K. et al. Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo-controlled, dose-titration trial. Muscle and Nerve. 2021;64(3):285-292.; NCT02500381. https://clinicaltrials.gov/ct2/show/NCT02500381.; NCT02530905. https://clinicaltrials.gov/ct2/show/NCT02530905.; NCT03532542. An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy. https://www.clinicaltrials.gov/study/NCT03532542.

Availability: https://www.medgen-journal.ru/jour/article/view/2407
https://doi.org/10.25557/2073-7998.2024.01.19-25

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4

Academic Journal

miRNA-targeting oligonucleotide constructs with various mechanisms of action as effective inhibitors of carcinogenesis ; МикроРНК-направленные олигонуклеотидные конструкции с различным механизмом действия для эффективного подавления процессов канцерогенеза

Authors: S. K. Miroshnichenko, O. A. Patutina, M. A. Zenkova, С. К. Мирошниченко, О. А. Патутина, М. А. Зенкова

Contributors: The study reported in this publication was funded by the Russian Science Foundation, Project No. 19-74-30011., Работа выполнена при финансовой поддержке Российского научного фонда в рамках гранта № 19-74-30011.

Source: Biological Products. Prevention, Diagnosis, Treatment; Том 24, № 2 (2024); 140-156 ; БИОпрепараты. Профилактика, диагностика, лечение; Том 24, № 2 (2024); 140-156 ; 2619-1156 ; 2221-996X ; 10.30895/2221-996X-2024-24-2

Subject Terms: миРНКазы, miRNA-targeted oligonucleotide constructs, carcinogenesis, small non-coding RNA, malignant neoplasms, miRNA-masking oligonucleotides, CRISPR/Cas, miRNA sponges, antisense oligonucleotides, miRNases, микроРНК-направленные олигонуклеотидные конструкции, канцерогенез, малые некодирующие РНК, злокачественные неоплазии, микроРНК-маскирующие олигонуклеотиды, микроРНК-спонжи, антисмысловые олигонуклеотиды

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https://doi.org/10.30895/2221-996X-2024-24-2-140-156

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5

Academic Journal

Prospects of etiopathogenetic treatment of Huntington’s disease ; Перспективы этиопатогенетического лечения болезни Гентингтона

Authors: O. B. Kondakova, S. V. Demyanov, A. V. Krasivskaya, G. V. Demyanov, D. I. Grebenkin, Yu. I. Davydova, A. A. Lyalina, E. R. Radkevich, K. V. Savostyanov, О. Б. Кондакова, С. В. Демьянов, А. В. Красивская, Г. В. Демьянов, Д. И. Гребенкин, Ю. И. Давыдова, А. А. Лялина, Е. Р. Радкевич, К. В. Савостьянов

Source: Neuromuscular Diseases; Том 13, № 1 (2023); 22-32 ; Нервно-мышечные болезни; Том 13, № 1 (2023); 22-32 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-1

Subject Terms: FAN1, genome editing, SNP, antisense oligonucleotides, RNA interference, PROTAC, stem cells, генное редактирование, антисмысловые олигонуклеотиды, РНК-интерференция, стволовые клетки

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Relation: https://nmb.abvpress.ru/jour/article/view/523/339; Bakels H.S., Roos R.A.C., van Roon-Mom W.M.C. et al. Juvenileonset huntington disease pathophysiology and neurodevelopment: a review. Mov Disord 2022;37(1):16–24. DOI:10.1002/mds.28823; Клюшников С.А. Болезнь Гентингтона. Неврологический журнал им. Л.О. Бадаляна 2020;1(3):139–58. DOI:10.17816/2686-8997-2020-1-3-139-158 Klyushnikov S.A. Huntington’s disease. Mevrologicheskiy zhurnal im. L.O. Badalyana = L.O. Badalyan Neurological Journal 2020;1(3):139–58. (In Russ.). DOI:10.17816/2686-8997-2020-1-3-139-158; Jarosińska O.D., Rüdiger S.G.D. Molecular strategies to target protein aggregation in Huntington’s disease. Front Mol Biosci 2021;8:769184. DOI:10.3389/fmolb.2021.769184; Sharon I., Sharon R., Wilkens J.P. et al. Huntington disease dementia. Available at: https://emedicine.medscape.com/article/289706overview?reg=1&icd=login_success_email_match_norm#a6.; Caron N.S., Wright G.E.B., Hayden M.R. Huntington disease. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1305/.; Tabrizi S.J., Ghosh R., Leavitt B.R. Huntingtin lowering strategies for disease modification in Huntington’s disease. Neuron 2019;101(5):801–19. DOI:10.1016/j.neuron.2019.01.039; Fields E., Vaughan E., Tripu D. et al. Gene targeting techniques for Huntington's disease. Ageing Res Rev 2021;70:101385. DOI:10.1016/j.arr.2021.101385; Shannon K.M. Recent Advances in the treatment of Huntington’s disease: targeting DNA and RNA. CNS Drugs 2020;34(3):219–28. DOI:10.1007/s40263-019-00695-3; Świtońska-Kurkowska K., Krist B., Delimata J. et al. Juvenile Huntington’s disease and other PolyQ diseases, update on neurodevelopmental character and comparative bioinformatic review of transcriptomic and proteomic data. Front Cell Dev Biol 2021;9:642773. DOI:10.3389/fcell.2021.642773; Beatriz M., Lopes C., Ribeiro A.C.S. et al. Revisiting cell and gene therapies in Huntington’s disease. J Neurosci Res 2021;99(7):1744–62. DOI:10.1002/jnr.24845; Kumar A., Kumar V., Singh K. et al. Therapeutic advances for Huntington’s disease. Brain Sci 2020;10(1):43. DOI:10.3390/brainsci10010043; Frank W., Lindenberg K.S., Mühlbäck A. et al. Krankheitsmodifizierende Therapieansätze bei der Huntington-Krankheit: Blicke zurück und Blicke voraus [Disease-modifying treatment approaches in Huntington disease : Past and future]. Nervenarzt 2022;93(2):179–90. DOI:10.1007/s00115-021-01224-8; Vachey G., Déglon N. CRISPR/Cas9-Mediated genome editing for Huntington’s disease. Methods Mol Biol 2018;1780:463–81. DOI:10.1007/978-1-4939-7825-0_21; Marxreiter F., Stemick J., Kohl Z. Huntington lowering strategies. Int J Mol Sci 2020;21(6):2146. DOI:10.3390/ijms21062146; Dabrowska M., Juzwa W., Krzyzosiak W.J. et al. Precise excision of the CAG tract from the Huntingtin gene by Cas9 nickases. Front Neurosci 2018;12:75. DOI:10.3389/fnins.2018.00075; Kolli N., Lu M., Maiti P. et al. CRISPR-Cas9 mediated genesilencing of the mutant huntingtin gene in an in vitro model of Huntington’s disease. Int J Mol Sci 2017;18(4):754. DOI:10.3390/ijms18040754; Pfister E.L., Kennington L., Straubhaar J. et al. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington’s disease patients. Curr Biol 2009;19(9):774–8. DOI:10.1016/j.cub.2009.03.030; Vigont V.A., Grekhnev D.A., Lebedeva O.S. et al. STIM2 mediates excessive store-operated calcium entry in patient-specific iPSCderived neurons modeling a juvenile form of Huntington’s disease. Front Cell Dev Biol 2021;9:625231. DOI:10.3389/fcell.2021.625231; Harding R.J., Tong Y.F. Proteostasis in Huntington’s disease: disease mechanisms and therapeutic opportunities. Acta Pharmacol Sin 2018;39(5):754–69. DOI:10.1038/aps.2018.11; Monk R., Connor B. Cell Replacement therapy for Huntington’s disease. Adv Exp Med Biol 2020;1266:57–69. DOI:10.1007/978-981-15-4370-8_5; Goold R., Hamilton J., Menneteau T. et al. FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease. Cell Rep 2021;36(9):109649. DOI:10.1016/j.celrep.2021.109649; Wheeler V.C., Dion V. Modifiers of CAG/CTG repeat instability: insights from mammalian models. J Huntingtons Dis 2021;10(1):123–48. DOI:10.3233/JHD-200426; Fjodorova M., Louessard M., Li Z. et al. CTIP2-regulated reduction in PKA-dependent DARPP32 phosphorylation in human medium spiny neurons: implications for Huntington disease. Stem Cell Rep 2019;13(3):448–57. DOI:10.1016/j.stemcr.2019.07.015; Paulsen J.S. Early detection of Huntington disease. Future Neurol 2010;5(1):10.2217/fnl.09.78. DOI:10.2217/fnl.09.78; Иллариошкин С.Н. Болезнь Гентингтона как модель для изучения нейродегенеративных заболеваний. Бюллетень Национального общества по изучению болезни Паркинсона и расстройств движений 2016;(1):3–11.; Akrich M., Paterson F., Rabeharisoa V. Social and ethical issues regarding presymptomatic diagnosis: a literature review. Available at: https://hal-mines-paristech.archives-ouvertes.fr/hal-03040870/ document.; https://nmb.abvpress.ru/jour/article/view/523

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https://doi.org/10.17650/2222-8721-2023-13-1-22-32

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6

Academic Journal

The use of antisense molecules for splicing modulation as a treatment for genetic disorders ; Применение антисмысловых молекул для коррекции нарушений сплайсинга в терапии наследственных заболеваний

Authors: A. S. Galushkin, A. Yu. Nekrasov, А. С. Галушкин, А. Ю. Некрасов

Contributors: The study was supported by the state task of the Ministry of Science and Higher Education of the Russian Federation, Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ»

Source: Medical Genetics; Том 22, № 2 (2023); 3-17 ; Медицинская генетика; Том 22, № 2 (2023); 3-17 ; 2073-7998

Subject Terms: мяРНК, gene therapy, antisense oligonucleotides, snRNA, генная терапия, антисмысловые олигонуклеотиды

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https://doi.org/10.25557/2073-7998.2023.02.3-17

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Prospects of Gene-Oriented Pharmacotherapy in Oncology

Source: ВЕСТНИК ОБРАЗОВАНИЯ И РАЗВИТИЯ НАУКИ РОССИЙСКОЙ АКАДЕМИИ ЕСТЕСТВЕННЫХ НАУК. :57-62

Subject Terms: рибозимы, short interfering RNA, онкология, RNA-interference, ген-ориентированная фармакотерапия, ribozymes, 3. Good health, DNAzymes, micro RNA, короткие интерферирующие РНК, gene-oriented pharmacotherapy, oncology, микроРНК, ДНКзимы, antisense oligonucleotides, антисмысловые олигонуклеотиды, РНК-интерференция

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Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects ; Проксимальная спинальная мышечная атрофия 5q в Республике Северная Осетия – Алания: популяционно-генетические особенности, проблемы диагностики и перспективы лечения

Authors: I. S. Tebieva, A. F. Murtazina, S. B. Artemieva, Yu. V. Gabisova, R. A. Zinchenko, И. С. Тебиева, А. Ф. Муртазина, С. Б. Артемьева, Ю. В. Габисова, Р. А. Зинченко

Source: Neuromuscular Diseases; Том 12, № 2 (2022); 28-36 ; Нервно-мышечные болезни; Том 12, № 2 (2022); 28-36 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2022-12-2

Subject Terms: спинальная мышечная атрофия, антисмысловые олигонуклеотиды, генозаместительная терапия, antisense oligonucleotide therapy, gene replacement therapy

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Relation: https://nmb.abvpress.ru/jour/article/view/486/320; D’Amico A., Mercuri E., Tiziano F.D. et al. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6(71). DOI:10.1186/1750-1172-6-71.; Cure SMA.org. Voice of the Patient Report. Available at: http://www.curesma.org/documents/advocacy-documents/sma-voice-of-the-patient.pdf.; Проксимальная спинальная мышечная атрофия 5q. Клинические рекомендации. 2020. Доступно по: https://cr.minzdrav.gov.ru/recomend/593_2.; Verhaart I.E.C., Robertson A., Wilson I.J. et al. Prevalence, incidence and carrier frequency of 5q linked spinal muscular atrophy: a literature review. Orphanet J Rare Dis 2017;12(1):124. DOI:10.1186/s13023-017-0671-8.; Забненкова В.В., Дадали Е.Л., Поляков А.В. Проксимальная спинальная мышечная атрофия типов I–IV: особенности молекулярногенетической диагностики. Нервномышечные болезни 2013;(3):27–31. DOI:10.17650/2222-8721-2013-03-27-31.; Prior T.W., Leach M.E., Finanger E. Spinal Muscular Atrophy. 2000. In: GeneReviews®. Seattle: University of Washington, 1993–2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1352/.; Lefebvre S., Bürglen L., Reboullet S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80(1):155–65. DOI:10.1016/0092-8674(95)90460-3.; Farrar M.A., Kiernan M.C. The genetics of spinal muscular atrophy: progress and challenges. Neurotherapeutics 2015;12(2):290–302. DOI:10.1007/s13311-014-0314-x.; Инструкция по медицинскому применению препарата Спинраза (МНН: нусинерсен) ЛП-005730 от 28.02.2020.; Инструкция по медицинскому применению препарата Эврисди (МНН: рисдиплин) ЛП-006602 от 26.11.2020.; Инструкция по медицинскому применению препарата Золгенсма.; Glanzman A.M., Mazzone E., Mainet M. et al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromusc Disord 2010;20(3):155–61. DOI:10.1016/j.nmd.2009.11.014.; De Sanctis R., Coratti G., Amy Pasternak A. et al. Developmental milestones in type I spinal muscular atrophy. Neuromusc Disord 2016;26(11):754–9. DOI:10.1016/j.nmd.2016.10.002.; Артемьева С.Б., Белоусова Е.Д., Влодавец Д.В. и др. Консенсус в отношении генозаместительной терапии для лечения спинальной мышечной атрофии. Неврологический журнал им. Л.О. Бадаляна 2021;2(1):7–9. DOI:10.46563/2686-8997-2021-2-1-7-9.; Артемьева С.Б., Кузенкова Л.М., Ильина Е.С. и др. Эффективность и безопасность препарата нусинерсен в рамках программы расширенного доступа в России. Нервно-мышечные болезни 2020;10(3):35–41. DOI:10.17650/2222-8721-2020-10-3-35-41.; https://nmb.abvpress.ru/jour/article/view/486

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