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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...
Autores principales: | Marchesani, Francesco, Michielon, Annalisa, Viale, Elisabetta, Bianchera, Annalisa, Cavazzini, Davide, Pollegioni, Loredano, Murtas, Giulia, Mozzarelli, Andrea, Bettati, Stefano, Peracchi, Alessio, Campanini, Barbara, Bruno, Stefano |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452355/ https://www.ncbi.nlm.nih.gov/pubmed/37627284 http://dx.doi.org/10.3390/biom13081219 |
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