Tabakov VY - Search Results

1

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY. Itkis Y, et al. Among authors: tabakov vy. Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19. Mitochondrion. 2019. PMID: 31009750

2

Airway and Lung Organoids from Human-Induced Pluripotent Stem Cells Can Be Used to Assess CFTR Conductance.

Demchenko A, Kondrateva E, Tabakov V, Efremova A, Salikhova D, Bukharova T, Goldshtein D, Balyasin M, Bulatenko N, Amelina E, Lavrov A, Smirnikhina S. Demchenko A, et al. Int J Mol Sci. 2023 Mar 27;24(7):6293. doi: 10.3390/ijms24076293. Int J Mol Sci. 2023. PMID: 37047264 Free PMC article.

3

Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.

Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY. Krylova TD, et al. Among authors: tabakov vy. Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26. Mitochondrion. 2020. PMID: 31669237

4

Activation of Mitochondrial 2-Oxoglutarate Dehydrogenase by Cocarboxylase in Human Lung Adenocarcinoma Cells A549 Is p53/p21-Dependent and Impairs Cellular Redox State, Mimicking the Cisplatin Action.

Bunik VI, Aleshin VA, Zhou X, Tabakov VY, Karlsson A. Bunik VI, et al. Among authors: tabakov vy. Int J Mol Sci. 2020 May 26;21(11):3759. doi: 10.3390/ijms21113759. Int J Mol Sci. 2020. PMID: 32466567 Free PMC article.

5

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.

Bychkov I, Filatova A, Perelman G, Proshlyakova T, Korotkova D, Klyushnikov S, Karpova M, Tabakov V, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Hum Genet. 2022 Jan;30(1):133-136. doi: 10.1038/s41431-021-00898-7. Epub 2021 May 6. Eur J Hum Genet. 2022. PMID: 33958742 Free PMC article.

6

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.

7

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.

Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S, Kutsev S. Kondrateva E, et al. Stem Cell Res. 2023 Dec;73:103259. doi: 10.1016/j.scr.2023.103259. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38006675 Free article.

8

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. NPJ Genom Med. 2022 Jul 26;7(1):44. doi: 10.1038/s41525-022-00315-y. NPJ Genom Med. 2022. PMID: 35882863 Free PMC article.

9

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.

Bychkov I, Kuznetsova A, Baydakova G, Gorobets L, Kenis V, Dimitrieva A, Filatova A, Tabakov V, Skoblov M, Zakharova E. Bychkov I, et al. NPJ Genom Med. 2022 Nov 14;7(1):66. doi: 10.1038/s41525-022-00337-6. NPJ Genom Med. 2022. PMID: 36376332 Free PMC article. No abstract available.

10

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.

Kovalskaia VA, Zabnenkova VV, Petukhova MS, Markova ZG, Tabakov VY, Ryzhkova OP. Kovalskaia VA, et al. Among authors: tabakov vy. Genes (Basel). 2022 Nov 23;13(12):2186. doi: 10.3390/genes13122186. Genes (Basel). 2022. PMID: 36553453 Free PMC article.

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