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...

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Detalles Bibliográficos
Autores principales: Frieg, Benedikt, Görg, Boris, Homeyer, Nadine, Keitel, Verena, Häussinger, Dieter, Gohlke, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
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

Internet

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

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