Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
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| Title: | Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin. |
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| Authors: | Zaklyazminskaya EV; Petrovsky National Research Centre of Surgery, Moscow 119991, Russia., Nefedova VV; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia., Koubassova NA; Institute of Mechanics, Lomonosov Moscow State University, Moscow 119192, Russia., Kotlukova NP; Pediatrics Faculty of Medicine, Pirogov Russian National Research Medical University, Moscow 117997, Russia., Kopylova GV; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Kochurova AM; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Shchepkin DV; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Ryabkova NS; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland., Katrukha IA; Department of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.; HyTest Ltd., 20520 Turku, Finland., Kleymenov SY; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.; Koltzov Institute of Developmental Biology, Russian Academy of Sciences, Moscow 119334, Russia., Bershitsky SY; Institute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia., Matyushenko AM; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia., Tsaturyan AK; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Levitsky DI; Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2024 Dec 05; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 05. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms252313059 |
