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Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies
Glutamine synthetase (GS) catalyzes ATP-dependent ligation of ammonia and glutamate to glutamine. Two mutations of human GS (R324C and R341C) were connected to congenital glutamine deficiency with severe brain malformations resulting in neonatal death. Another GS mutation (R324S) was identified in a...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737493/ https://www.ncbi.nlm.nih.gov/pubmed/26836257 http://dx.doi.org/10.1371/journal.pcbi.1004693 |