Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Inosine 5′ monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2 have recently been associated with dystonia and other neurodevelopmental disorders, b...

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Detalles Bibliográficos
Autores principales: O’Neill, Audrey G., Burrell, Anika L., Zech, Michael, Elpeleg, Orly, Harel, Tamar, Edvardson, Simon, Mor-Shaked, Hagar, Rippert, Alyssa L., Nomakuchi, Tomoki, Izumi, Kosuke, Kollman, Justin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10407431/
https://www.ncbi.nlm.nih.gov/pubmed/37414152
http://dx.doi.org/10.1016/j.jbc.2023.105012

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