Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Noelia Fradejas Villar"'
1
Akademický článek
Missense mutation in selenocysteine synthase causes cardio-respiratory failure and perinatal death in mice which can be compensated by selenium-independent GPX4
Autor: Noelia Fradejas-Villar, Wenchao Zhao, Uschi Reuter, Michael Doengi, Irina Ingold, Simon Bohleber, Marcus Conrad, Ulrich Schweizer
Publikováno v: Redox Biology, Vol 48, Iss , Pp 102188- (2021)
Selenoproteins are a small family of proteins containing the trace element selenium in form of the rare amino acid selenocysteine (Sec), which is decoded by the UGA codon. In humans, a number of pathogenic variants in genes encoding distinct selenopr
Externí odkaz: https://doaj.org/article/f6302178548c423e8a2aad1b6790908b
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2
Akademický článek
High-Resolution Ribosome Profiling Reveals Gene-Specific Details of UGA Re-Coding in Selenoprotein Biosynthesis
Autor: Simon Bohleber, Noelia Fradejas-Villar, Wenchao Zhao, Uschi Reuter, Ulrich Schweizer
Publikováno v: Biomolecules, Vol 12, Iss 10, p 1504 (2022)
Co-translational incorporation of selenocysteine (Sec) into selenoproteins occurs at UGA codons in a process in which translational elongation competes with translational termination. Selenocysteine insertion sequence-binding protein 2 (SECISBP2) gre
Externí odkaz: https://doaj.org/article/4504362c517646c2b171a7b89b608e6c
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3
Akademický článek
The Neurobiology of Selenium: Looking Back and to the Future
Autor: Ulrich Schweizer, Simon Bohleber, Wenchao Zhao, Noelia Fradejas-Villar
Publikováno v: Frontiers in Neuroscience, Vol 15 (2021)
Eighteen years ago, unexpected epileptic seizures in Selenop-knockout mice pointed to a potentially novel, possibly underestimated, and previously difficult to study role of selenium (Se) in the mammalian brain. This mouse model was the key to open t
Externí odkaz: https://doaj.org/article/aa812168596d4f91b318c6c333a56aa7
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4
Missense mutation in selenocysteine synthase causes cardio-respiratory failure and perinatal death in mice which can be compensated by selenium-independent GPX4
Autor: Simon Bohleber, Ulrich Schweizer, Irina Ingold, Michael Doengi, Wenchao Zhao, Uschi Reuter, Noelia Fradejas-Villar, Marcus Conrad
Publikováno v: Redox Biology
Redox Biol. 48:102188 (2021)
Redox Biology, Vol 48, Iss, Pp 102188-(2021)
Selenoproteins are a small family of proteins containing the trace element selenium in form of the rare amino acid selenocysteine (Sec), which is decoded by the UGA codon. In humans, a number of pathogenic variants in genes encoding distinct selenopr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a88a1e07744572f91dce104337c05a
https://pubmed.ncbi.nlm.nih.gov/34794077
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5
The Effect of tRNA
Autor: Tsutomu Suzuki, Uschi Reuter, Noelia Fradejas-Villar, Wenchao Zhao, Kenjyo Miyauchi, Rainer Knoll, Robert McFarland, Mark Helm, Simon Bohleber, Robert W. Taylor, Yuriko Sakaguchi, Annika Kotter, Ulrich Schweizer, Yufeng Mo
Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 21
International Journal of Molecular Sciences, Vol 22, Iss 11454, p 11454 (2021)
Transfer RNA[Ser]Sec carries multiple post-transcriptional modifications. The A37G mutation in tRNA[Ser]Sec abrogates isopentenylation of base 37 and has a profound effect on selenoprotein expression in mice. Patients with a homozygous pathogenic p.R
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1967639b9aa4e7dc4adf45688eabfdd0
https://pubmed.ncbi.nlm.nih.gov/34768885
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6
Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations
Autor: Uschi Reuter, Doreen Braun, Ulrich Schweizer, Michael T. Howard, Simon Bohleber, Sandra Seeher, Wenchao Zhao, S. Arndt, Hagen Wende, Carmen Birchmeier, Henrik Schmidt, Noelia Fradejas-Villar
Publikováno v: Journal of Biological Chemistry. 294:14185-14200
Recoding of UGA codons as selenocysteine (Sec) codons in selenoproteins depends on a selenocysteine insertion sequence (SECIS) in the 3′-UTR of mRNAs of eukaryotic selenoproteins. SECIS-binding protein 2 (SECISBP2) increases the efficiency of this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07196a118cf06c0610784e167c04ffba
https://doi.org/10.1074/jbc.ra119.009369
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8
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions
Autor: Noelia Fradejas-Villar
Publikováno v: Free Radical Biology and Medicine. 127:206-214
In its 200 years of history, selenium has been defined first as a toxic element and finally as a micronutrient. Selenium is incorporated into selenoproteins as selenocysteine (Sec), the 21st proteinogenic amino acid codified by a stop codon. Specific
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adfa907d3831c8ccb6d0ec7d72839fa2
https://doi.org/10.1016/j.freeradbiomed.2018.04.572
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9
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
Autor: Noelia Fradejas-Villar, Ann-Kathrin Ruppert, Yvonne G. Weber, Alexander Grote, Herbert Schulz, Christian E. Elger, Gregor Baron, Ulrich Schweizer, Elias S.J. Arnér, Gábor Zsurka, Sandra Seeher, Kevin G. Hampel, Lutz Schomburg, Peter Nürnberg, Alexei P. Kudin, Holger Lerche, Wolfram S. Kunz, Qing Cheng, Holger Thiele, Thomas Sander
Publikováno v: FREE RADICAL BIOLOGY AND MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369f6a618380fb2d37f75f9727843d91
https://doi.org/10.1016/j.freeradbiomed.2017.02.040
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10
The modified base isopentenyladenosine and its derivatives in tRNA
Autor: Ulrich Schweizer, Simon Bohleber, Noelia Fradejas-Villar
Publikováno v: RNA Biology
Base 37 in tRNA, 3′-adjacent to the anticodon, is occupied by a purine base that is thought to stabilize codon recognition by stacking interactions on the first Watson-Crick base pair. If the first codon position forms an A.U or U.A base pair, the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1f5003f76f3eaa457bac0c69cd4356
https://doi.org/10.1080/15476286.2017.1294309
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