Alexandre Kauskot: Platelet Sialylation – Unlocking the Mystery of GNE Deficiency
Alexandre Kauskot, Research Scientist at INSERM, shared a post on LinkedIn:
“Pleased to share our new commentary, co-authored with François Foulquier:
‘Platelet sialylation as a window into GNE deficiency‘ in Journal of Thrombosis and Haemostasis (JTH)
GNE deficiency provides a unique opportunity to explore the consequences of altered sialic acid metabolism on platelet biology.
In this Commentary, we discuss the role of platelet sialylation in GNE-related thrombocytopenia and the insights that platelet biology can bring to our understanding of this rare disorder.
This work also comes at an exciting time, alongside the recent study by Alessandra Balduini, Alessandro Pecci, Christian Andrea Di Buduo, Serena Barozzi and colleagues, which provides new insights into the pathogenesis, diagnosis and treatment of GNE-related thrombocytopenia.
Together, these studies highlight the importance of platelet glycosylation and sialylation in understanding inherited platelet disorders.
Looking forward, this work also resonates with the objectives of HUB4GLYCO, the national research network initiated by François Foulquier under the auspices of the CNRS, bringing together 22 research teams to advance our understanding of glycosylation disorders and foster collaborations between fundamental and clinical research.
Thanks to Kellie Machlus, Associate Editor, for giving us the opportunity to contribute this Commentary.
Discover HUB4GLYCO:”
Title 1: Platelet sialylation as a window into GNE deficiency
Authors: François Foulquier, Alexandre Kauskot
Read the Full Article on JTH
Title 2: Characterization of a series of patients with GNE-related thrombocytopenia: insights into pathogenesis, diagnosis, and treatment
Authors: Serena Barozzi, Christian A. Di Buduo, Stefania Zampieri, Federica Isidori, Simone Frisari, Giuseppe Lassandro, Marco Lunghi, Alice Martinotti Valeria Bozzi, Tommaso Mina, Simone Cesaro, Tommaso Pippucci, Paola Giordano, Alessandra Balduini, Alessandro Pecci
Read the Full Article on JTH
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