Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization

Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization

In humans, the phosphorylated pathway (PP) converts the glycolytic intermediate D-3-phosphoglycerate (3-PG) into L-serine through the enzymes 3-phosphoglycerate dehydrogenase, phosphoserine aminotransferase (PSAT) and phosphoserine phosphatase. From the pathogenic point of view, the PP in the brain...

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Main Authors: Francesco Marchesani, Annalisa Michielon, Elisabetta Viale, Annalisa Bianchera, Davide Cavazzini, Loredano Pollegioni, Giulia Murtas, Andrea Mozzarelli, Stefano Bettati, Alessio Peracchi, Barbara Campanini, Stefano Bruno
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Biomolecules
Subjects:
phosphorylated pathway
serine deficiency disorders
phosphoserine aminotransferase
Neu–Laxova syndrome
neurometabolic disorders
Online Access:https://www.mdpi.com/2218-273X/13/8/1219

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