Metabolic and Structural Consequences of GM3 Synthase Deficiency: Insights from an HEK293-T Knockout Model

Metabolic and Structural Consequences of GM3 Synthase Deficiency: Insights from an HEK293-T Knockout Model

<b>Background</b>: GM3 Synthase Deficiency (GM3SD) is a rare autosomal recessive neurodevelopmental disease characterized by recurrent seizures and neurological deficits. The disorder stems from mutations in the <i>ST3GAL5</i> gene, encoding GM3 synthase (GM3S), a key enzyme...

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Main Authors: Elena Chiricozzi, Giulia Lunghi, Manuela Valsecchi, Emma Veronica Carsana, Rosaria Bassi, Erika Di Biase, Dorina Dobi, Maria Grazia Ciampa, Laura Mauri, Massimo Aureli, Kei-ichiro Inamori, Jin-ichi Inokuchi, Sandro Sonnino, Maria Fazzari
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Biomedicines
Subjects:
GM3 synthase deficiency
gangliosides
neurodegeneration
lysosomes
plasma membrane
Online Access:https://www.mdpi.com/2227-9059/13/4/843
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