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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

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Gianluca Pistoia

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Open access Sep 2026

Structural and functional defects of mitochondrial serine hydroxymethyltransferase genetic variants responsible for a novel neurodevelopmental syndrome

In 2020 seven genetic variants of the mitochondrial serine hydroxymethyl transferase (SHMT2) were linked to a novel brain and heart developmental syndrome. SHMT2 is a pyridoxal 5′-phosphate (PLP) binding enzyme involved in one-carbon metabolism and mitochondrial redox homeostasis, which also shows several moonlighting...

Giovanna Boumis, S. Breccia, Gianluca Pistoia et al. · 0 citations

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