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Year Number of Results
2016 2
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33 results

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Clonal analysis of SepSecS-specific B and T cells in autoimmune hepatitis.
Kramer M, Mele F, Jovic S, Fernandez BM, Jarrossay D, Low JS, Sokollik C, Filipowicz Sinnreich M, Ferrari-Lacraz S, Mieli-Vergani G, Vergani D, Lanzavecchia A, Cassotta A, Terziroli Beretta-Piccoli B, Sallusto F. Kramer M, et al. J Clin Invest. 2025 Jan 16;135(2):e183776. doi: 10.1172/JCI183776. J Clin Invest. 2025. PMID: 39817450 Free PMC article.
SepSecS-specific T cell clones from patients with AIH produced IFN-gamma, IL-4, and IL-10, targeted multiple SepSecS epitopes, and, in one patient, were clonally expanded in both blood and liver biopsy. Finally, SepSecS-specific B cell clones, but not those o …
SepSecS-specific T cell clones from patients with AIH produced IFN-gamma, IL-4, and IL-10, targeted multiple SepSecS epitopes, …
Structural basis for the tRNA-dependent activation of the terminal complex of selenocysteine synthesis in humans.
Puppala AK, Castillo Suchkou J, French RL, Kiernan KA, Simonović M. Puppala AK, et al. Nucleic Acids Res. 2023 May 8;51(8):4012-4026. doi: 10.1093/nar/gkad182. Nucleic Acids Res. 2023. PMID: 36929010 Free PMC article.
O-Phosphoseryl-tRNASec selenium transferase (SepSecS) catalyzes the terminal step of selenocysteine (Sec) synthesis in archaea and eukaryotes. ...Our biochemical and mutational analyses demonstrate that productive SepSecS tRNASec complex formation is enthalpically d …
O-Phosphoseryl-tRNASec selenium transferase (SepSecS) catalyzes the terminal step of selenocysteine (Sec) synthesis in archaea and eu …
Human selenocysteine synthase, SEPSECS, has evolved to optimize binding of a tRNA-based substrate.
Puppala AK, Sosa D, Castillo Suchkou J, French RL, Dobosz-Bartoszek M, Kiernan KA, Simonović M. Puppala AK, et al. Nucleic Acids Res. 2024 Nov 27;52(21):13368-13385. doi: 10.1093/nar/gkae875. Nucleic Acids Res. 2024. PMID: 39385655 Free PMC article.
O-phosphoseryl-tRNASec selenium transferase (SepSecS) catalyzes the terminal reaction of Sec synthesis on tRNASec in archaea and eukaryotes. ...Herein, using a comparative structural and phylogenetic analysis, we show that the tRNA-binding motifs in SEPSECS are poor …
O-phosphoseryl-tRNASec selenium transferase (SepSecS) catalyzes the terminal reaction of Sec synthesis on tRNASec in archaea and euka …
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E, Chatterjee K. Schoenmakers E, et al. Int J Mol Sci. 2021 Nov 29;22(23):12927. doi: 10.3390/ijms222312927. Int J Mol Sci. 2021. PMID: 34884733 Free PMC article. Review.
Selenium, a trace element fundamental to human health, is incorporated as the amino acid selenocysteine (Sec) into more than 25 proteins, referred to as selenoproteins. Human mutations in SECISBP2, SEPSECS and TRU-TCA1-1, three genes essential in the selenocysteine incorpo …
Selenium, a trace element fundamental to human health, is incorporated as the amino acid selenocysteine (Sec) into more than 25 proteins, re …
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
Ghasemi MR, Tehrani Fateh S, Moeinafshar A, Sadeghi H, Karimzadeh P, Mirfakhraie R, Rezaei M, Hashemi-Gorji F, Rezvani Kashani M, Fazeli Bavandpour F, Bagheri S, Moghimi P, Rostami M, Madannejad R, Roudgari H, Miryounesi M. Ghasemi MR, et al. BMC Med Genomics. 2024 Feb 13;17(1):51. doi: 10.1186/s12920-024-01810-0. BMC Med Genomics. 2024. PMID: 38347586 Free PMC article.
Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1. Almost all patients presented with developmental delay, hypotonia, seizure, and microcephaly being common features. ...
Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1. Almost all patients presented with devel …
Integrative identification of hub genes in development of atrial fibrillation related stroke.
Huang K, Fan X, Jiang Y, Jin S, Huang J, Pang L, Wang Y, Wu Y, Sun X. Huang K, et al. PLoS One. 2023 Mar 23;18(3):e0283617. doi: 10.1371/journal.pone.0283617. eCollection 2023. PLoS One. 2023. PMID: 36952494 Free PMC article.
Co-expressed hub genes of EIF4E3, ZNF595, ZNF700, MATR3, ACKR4, ANXA3, SEPSECS-AS1, and RNF166 were significantly associated with AF-related stroke. The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke. ...CONCLUSIONS: Hu …
Co-expressed hub genes of EIF4E3, ZNF595, ZNF700, MATR3, ACKR4, ANXA3, SEPSECS-AS1, and RNF166 were significantly associated with AF- …
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
Yang H, Wang X, Blanco-Gómez A, He L, García-Sancha N, Corchado-Cobos R, Pérez-Baena MJ, Jiménez-Navas A, Wang P, Inman JL, Snijders AM, Threadgill DW, Balmain A, Chang H, Perez-Losada J, Mao JH. Yang H, et al. EBioMedicine. 2024 Aug;106:105260. doi: 10.1016/j.ebiom.2024.105260. Epub 2024 Jul 26. EBioMedicine. 2024. PMID: 39067134 Free PMC article.
Multivariate analyses flagged SNPs in 20 genes (Stx6, Ramp1, Traf3ip1, Nckap5, Pfkfb2, Trmt1l, Rprd1b, Rer1, Sepsecs, Rhobtb1, Tsen15, Abcc3, Arid5b, Tnr, Dock2, Tti1, Fam81a, Oxr1, Plxna2, and Tbc1d31) independently tied to various tumour characteristics, designated as a …
Multivariate analyses flagged SNPs in 20 genes (Stx6, Ramp1, Traf3ip1, Nckap5, Pfkfb2, Trmt1l, Rprd1b, Rer1, Sepsecs, Rhobtb1, Tsen15 …
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.
Fradejas-Villar N. Fradejas-Villar N. Free Radic Biol Med. 2018 Nov 1;127:206-214. doi: 10.1016/j.freeradbiomed.2018.04.572. Epub 2018 Apr 27. Free Radic Biol Med. 2018. PMID: 29709707 Review.
Genetic generalized epilepsy was associated with mutations in TXNRD1 gene. Mutations in biosynthetic factors as SEPSECS, SECISBP2 and even tRNA([Ser]Sec), have been also related to diseases. Thus, SEPSECS mutations produce a neurodegenerative disease called now pont …
Genetic generalized epilepsy was associated with mutations in TXNRD1 gene. Mutations in biosynthetic factors as SEPSECS, SECISBP2 and …
Gene-Environment Interactions in Inflammatory Bowel Disease: A Systematic Review of Human Epidemiologic Studies.
Bai J, Bouwknegt DG, Weersma RK, Dijkstra G, van der Sloot KWJ, Festen EAM. Bai J, et al. J Crohns Colitis. 2025 Jun 4;19(6):jjaf061. doi: 10.1093/ecco-jcc/jjaf061. J Crohns Colitis. 2025. PMID: 40464295 Free PMC article.
Gene-diet interactions were observed across multiple nutritional measures, including fatty acid intake with CYP4F3 and FADS2, serum selenium with SEPHS1 and SEPSECS, potassium intake with IL21, alcohol consumption with IL12B, heme iron intake with FCGR2A, and serum vitamin …
Gene-diet interactions were observed across multiple nutritional measures, including fatty acid intake with CYP4F3 and FADS2, serum selenium …
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E, Chatterjee K. Schoenmakers E, et al. Antioxid Redox Signal. 2020 Sep 1;33(7):481-497. doi: 10.1089/ars.2020.8097. Epub 2020 May 11. Antioxid Redox Signal. 2020. PMID: 32295391 Free PMC article.
Significance: Generalized selenoprotein deficiency has been associated with mutations in SECISBP2, SEPSECS, and TRU-TCA1-1, 3 factors that are crucial for incorporation of the amino acid selenocysteine (Sec) into at least 25 human selenoproteins. SECISBP2 and TRU-TCA1-1 de …
Significance: Generalized selenoprotein deficiency has been associated with mutations in SECISBP2, SEPSECS, and TRU-TCA1-1, 3 factors …
33 results