Zobrazeno 1 - 10 of 25 pro vyhledávání: '"Marios P. Stavridis"'
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Akademický článek
mRNA Cap Methylation in Pluripotency and Differentiation
Autor: Laura Grasso, Olga Suska, Lindsay Davidson, Thomas Gonatopoulos-Pournatzis, Ritchie Williamson, Lize Wasmus, Simone Wiedlich, Mark Peggie, Marios P. Stavridis, Victoria H. Cowling
Publikováno v: Cell Reports, Vol 16, Iss 5, Pp 1352-1365 (2016)
The mRNA cap recruits factors essential for transcript processing and translation initiation. We report that regulated mRNA cap methylation is a feature of embryonic stem cell (ESC) differentiation. Expression of the mRNA cap methyltransferase activa
Externí odkaz: https://doaj.org/article/7c9280d710e449b4a47eba3aaf8090c7
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An O-GlcNAc transferase pathogenic variant that affects pluripotent stem cell self-renewal
Autor: Michaela Omelková, Christina Dühring Fenger, Marta Murray, Trine Bjørg Hammer, Veronica M. Pravata, Sergio Galan Bartual, Ignacy Czajewski, Allan Bayat, Andrew T. Ferenbach, Marios P. Stavridis, Daan M. F. van Aalten
O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) is an essential enzyme that modifies proteins with O-GlcNAc. InbornOGTgenetic variants were recently shown to mediate a novel type of Congenital Disorder of Glycosylation (OGT-CDG) which is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::082e817270bc041dff49a3eae394dc39
https://doi.org/10.1101/2023.03.13.531514
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An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
Autor: Jozef Gecz, Chelsea Desbiens, Charles E. Schwartz, Katrin Õunap, Lance Wells, Shelagh Joss, Veronica M. Pravata, M. Gundogdu, Dirk Lefeber, Michaela Omelková, Daan M. F. van Aalten, Marios P. Stavridis, Hannah M Stephen
Publikováno v: European Journal of Human Genetics, 28, 6, pp. 706-714
European Journal of Human Genetics
European Journal of Human Genetics, 28, 706-714
Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5−10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b01a9f53f9eb3524fd4d40aa5b3c7d00
https://doi.org/10.1038/s41431-020-0589-9
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An ERK5-KLF2 signalling module regulates early embryonic gene expression and telomere rejuvenation in stem cells
Autor: Charles A. C. Williams, Diana O. Rios-Szwed, Helen A. Brown, Houjiang Zhou, Greg M. Findlay, Marios P. Stavridis, Saria Mansoor, Julien Peltier, Jose M. Lizcano, Matthias Trost, Robert Gourlay, Liam McMulkin, Rosalia Fernandez-Alonso, Rachel Toth, Nora Diéguez-Martínez
Publikováno v: Biochemical Journal
The ERK5 MAP kinase signalling pathway drives transcription of naïve pluripotency genes in mouse Embryonic Stem Cells (mESCs). However, how ERK5 impacts on other aspects of mESC biology has not been investigated. Here, we employ quantitative proteom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a372c7a259282ccaabb9dcc4974f4525
https://pubmed.ncbi.nlm.nih.gov/34780645
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A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability
Autor: Marios P. Stavridis, Mehmet Gundogdu, Sergio G. Bartual, Daan M. F. van Aalten, Andrew T. Ferenbach, Riina Žordania, Katrin Õunap, Veronica M. Pravata, Monica H. Wojcik, Sander Pajusalu
Publikováno v: Febs Letters
'FEBS Letters ', vol: 594, pages: 717-727 (2020)
X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O‐GlcNAc transferase encoded by OGT, a recently discovered XLID gene, attaches O‐GlcNAc to nuclear and cytoplasmic proteins. As few missense mutations have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61acf6a8c1640c37be9157737cb90f8a
https://doi.org/10.1002/1873-3468.13640
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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
Autor: Veronica M. Pravata, Villo Muha, Mehmet Gundogdu, Andrew T. Ferenbach, Poonam S. Kakade, Vasudha Vandadi, Ariane C. Wilmes, Vladimir S. Borodkin, Shelagh Joss, Marios P. Stavridis, Daan M. F. van Aalten
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Significance Protein O-GlcNAcylation is a posttranslational modification essential for development. Recently, mutations in the O-GlcNAc transferase (OGT) substrate binding domain have been described that lead to intellectual disability, but the mecha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28776fb5c2c40659b0a762713c62179c
https://doi.org/10.1073/pnas.1900065116
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Specific Glycosaminoglycans Modulate Neural Specification of Mouse Embryonic Stem Cells
Autor: Rebecca J. Holley, Christopher M. Ward, Marios P. Stavridis, Graham Rushton, Catherine L.R. Merry, Claire E. Pickford
Publikováno v: Stem Cells. 29:629-640
Mouse embryonic stem (mES) cells express a low sulfated form of heparan sulfate (HS). HS chains displayed by ES cells and their progeny become more complex and more sulfated during progression from pluripotency to neuroectodermal precursors. Sulfated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b431024f05629034a7c429097c245c7
https://doi.org/10.1002/stem.610
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