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:
Christopher J. Staples, Maria Ekerot, Marios P. Stavridis, Iain D. Keenan, Robin J. Dickinson, David M. Owens, Stephen M. Keyse, Laurent Delavaine, Michael Mitchell, Kate G. Storey
Publikováno v:
Biochemical Journal
DUSP6 (dual-specificity phosphatase 6), also known as MKP-3 [MAPK (mitogen-activated protein kinase) phosphatase-3] specifically inactivates ERK1/2 (extracellular-signal-regulated kinase 1/2) in vitro and in vivo. DUSP6/MKP-3 is inducible by FGF (fib