Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

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, Shaked, Hagar Mor, Rippert, Alyssa L, Nomakuchi, Tomoki, Izumi, Kosuke, Kollman, Justin M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055058/
https://www.ncbi.nlm.nih.gov/pubmed/36993700
http://dx.doi.org/10.1101/2023.03.15.532669

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