Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism

Schweizer, Ulrich; Fradejas‐Villar, Noelia

doi:10.1096/fj.201600424

Cited by 80 publications

(57 citation statements)

References 104 publications

(121 reference statements)

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“…In mammals, 25 selenoprotein‐encoding genes have been identified whose entire invalidation through Sec tRNA gene knockout leads to early embryonic lethality in rodents . Likewise, mutations in human Sec tRNA or SECIS binding protein lead to complex disorders …”

Section: Introductionmentioning

confidence: 99%

“…8 Likewise, mutations in human Sec tRNA or SECIS binding protein lead to complex disorders. 9 Due to the presence of Sec in their catalytic site, selenoproteins exert important oxidoreductase activities and include several major enzymes, such as glutathione peroxidases (GPx), thioredoxin reductases (TrxR) and iodothyronine deiodinases which protect cells from oxidative stress and catalyse key redox reactions. 10 In addition to their role in detoxification of free radicals, diverse essential functions were attributed to selenoproteins, such as the implication of deiodinases in thyroid hormone metabolism, 11 the selenoproteins N, M or K in Ca 2+ regulation 12 or TrxR in signal transduction and transcription regulation.…”

Section: Introductionmentioning

confidence: 99%

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A selenoprotein T‐derived peptide protects the heart against ischaemia/reperfusion injury through inhibition of apoptosis and oxidative stress

et al. 2018

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A selenoprotein T‐derived peptide protects the heart against ischaemia/reperfusion injury through inhibition of apoptosis and oxidative stress

et al. 2018

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“…2 Sec is co-translationally inserted into a polypeptide chain in response to in-frame UGA codons directed by the Sec insertion sequence element, a stem-loop structure in the 3Ј-UTRs of selenoprotein mRNAs. The human genome contains 25 selenoprotein genes (1), and selenoproteins are essential for embryo development and human health (2,3). Among the selenoproteins, 13 have known functions; at least 12 of them serve as oxidoreductases, wherein Sec is the catalytic redox-active residue.…”

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confidence: 99%

Selenoprotein Gene Nomenclature

Gladyshev

Arnér

Berry

et al. 2016

Journal of Biological Chemistry

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“…Both severe Se-excess and Se-deficiency cause serious symptoms (82,83). Inborn errors of Secproteins cause protein-specific traits (84). Male genitalia, thyroid, brain, and placenta have high Se-content and their Se-contents are resistant to acute Se-deficiency (79).…”

Section: Gwas Studiesmentioning

confidence: 99%

Spontaneous premature birth as a target of genomic research

et al. 2018

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Spontaneous preterm birth is a serious and common pregnancy complication associated with hormonal dysregulation, infection, inflammation, immunity, rupture of fetal membranes, stress, bleeding, and uterine distention. Heredity is 25-40% and mostly involves the maternal genome, with contribution of the fetal genome. Significant discoveries of candidate genes by genome-wide studies and confirmation in independent replicate populations serve as signposts for further research. The main task is to define the candidate genes, their roles, localization, regulation and the associated pathways that influence the onset of human labor. Genomic research has identified some candidate genes that involve growth, differentiation, endocrine function, immunity and other defense functions. For example, selenocysteine-specific elongation factor (EEFSEC) influences synthesis of selenoproteins. WNT4 regulates decidualization, while a heat-shock protein family A (HSP70) member 1 like, HSPAIL, influences expression of glucocorticoid receptor and WNT4. Programming of pregnancy duration starts before pregnancy and during placentation. Future goals are to understand the interactive regulation of the pathways in order to define the clocks that influence the risk of prematurity and the duration of pregnancy. Premature birth has a great impact on the duration and the quality of life. Intensification of focused research on causes, prediction and prevention of prematurity is justified.Abbreviations: CA, chorioamnionitis; CRH, corticotropin-releasing hormone; DHEA, dehydroepiandrosterone; GWAS, genome-wide association study; P4, progesterone; PR, progesterone receptor; PTB, preterm live birth; PPROM, preterm prelabor rupture of fetal membranes; Sec, Selenocysteine; SNV, single nucleotide variant; SPTB, spontaneous preterm live birth; SPTD, spontaneous preterm labor and delivery of live infant; WES, whole exome sequencing; WGS, whole genome sequencing

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Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism

Cited by 80 publications

References 104 publications

A selenoprotein T‐derived peptide protects the heart against ischaemia/reperfusion injury through inhibition of apoptosis and oxidative stress

A selenoprotein T‐derived peptide protects the heart against ischaemia/reperfusion injury through inhibition of apoptosis and oxidative stress

Selenoprotein Gene Nomenclature

Spontaneous premature birth as a target of genomic research

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