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Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells
Glucose-6-phosphatase-α (G6Pase-α) catalyzes the hydrolysis of glucose-6-phosphate to glucose and functions as a key regulator in maintaining blood glucose homeostasis. Deficiency in G6Pase-α causes glycogen storage disease 1a (GSD1a), an inherited disorder characterized by life-threatening hypoglyc...
Autores principales: | Cao, Jingsong, Markel, Arianna, Hanahoe, Erin, Ketova, Tatiana, Mihai, Cosmin, Zalinger, Zach, Marquardt, David, Amato, Nicholas J., Cheng, Yi Min, Reid, David W., Dousis, Athanasios, Giangrande, Paloma H., Schultz, Joshua R., Martini, Paolo G. V., Finn, Patrick F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Vienna
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10247848/ https://www.ncbi.nlm.nih.gov/pubmed/36944899 http://dx.doi.org/10.1007/s00726-023-03263-8 |
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