Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marios P. Stavridis"'
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
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
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)
'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
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
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