Search Results - "Pravata, Veronica M"

TIMP-3 facilitates binding of target metalloproteinases to the endocytic receptor LRP-1 and promotes scavenging of MMP-1 by Carreca, Anna P., Pravatà, Veronica M., Markham, Matthew, Bonelli, Simone, Murphy, Gillian, Nagase, Hideaki, Troeberg, Linda, Scilabra, Simone D.

“…Matrix metalloproteinases (MMPs) and the related families of disintegrin metalloproteinases (ADAMs) and ADAMs with thrombospondin repeats (ADAMTSs) play a…”
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The citron homology domain as a scaffold for Rho1 signaling by Bartual, Sergio G., Wei, Wenfan, Zhou, Yao, Pravata, Veronica M., Fang, Wenxia, Yan, Kaizhou, Ferenbach, Andrew T., Lockhart, Deborah E. A., van Aalten, Daan M. F.

“…Aspergillus fumigatus is a human opportunistic pathogen showing emerging resistance against a limited repertoire of antifungal agents available. The GTPase…”
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An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal by Omelková, Michaela, Fenger, Christina Dühring, Murray, Marta, Hammer, Trine Bjørg, Pravata, Veronica M, Bartual, Sergio Galan, Czajewski, Ignacy, Bayat, Allan, Ferenbach, Andrew T, Stavridis, Marios P, van Aalten, Daan M F

“…O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) is an essential enzyme that modifies proteins with O-GlcNAc. Inborn OGT genetic variants were…”
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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 by Pravata, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., Aalten, Daan M. F.

“…X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O‐GlcNAc transferase encoded by OGT, a recently discovered XLID gene,…”
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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability by Pravat, Veronica M., Muh, Villo, Gundogd, Mehmet, Ferenbac, Andrew T., Kakad, Poonam S., Vandad, Vasudha, Wilme, Ariane C., Borodki, Vladimir S., Jos, Shelagh, Stavridi, Marios P., van Aalten, Daan M. F.

“…O-GlcNAc transferase (OGT) is an X-linked gene product that is essential for normal development of the vertebrate embryo. It catalyses the O-GlcNAc…”
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An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase by Pravata, Veronica M, Omelková, Michaela, Stavridis, Marios P, Desbiens, Chelsea M, Stephen, Hannah M, Lefeber, Dirk J, Gecz, Jozef, Gundogdu, Mehmet, Õunap, Katrin, Joss, Shelagh, Schwartz, Charles E, Wells, Lance, van Aalten, Daan M F

“…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…”
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O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis by Soria, Leandro R., Makris, Georgios, D’Alessio, Alfonso M., De Angelis, Angela, Boffa, Iolanda, Pravata, Veronica M., Rüfenacht, Véronique, Attanasio, Sergio, Nusco, Edoardo, Arena, Paola, Ferenbach, Andrew T., Paris, Debora, Cuomo, Paola, Motta, Andrea, Nitzahn, Matthew, Lipshutz, Gerald S., Martínez-Pizarro, Ainhoa, Richard, Eva, Desviat, Lourdes R., Häberle, Johannes, van Aalten, Daan M. F., Brunetti-Pierri, Nicola

“…Life-threatening hyperammonemia occurs in both inherited and acquired liver diseases affecting ureagenesis, the main pathway for detoxification of neurotoxic…”
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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability by Pravata, Veronica M, Muha, Villo, Gundogdu, Mehmet, Ferenbach, Andrew T, Kakade, Poonam S, Vandadi, Vasudha, Wilmes, Ariane C, Borodkin, Vladimir S, Joss, Shelagh, Stavridis, Marios P, van Aalten, Daan M F

“…Many bacteria contain cytoplasmic chemoreceptors that lack sensor domains. Here, we demonstrate that such cytoplasmic receptors found in 8 different bacterial…”
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