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EMD-29482
Human IMPDH2 mutant - L245P, treated with GTP, ATP, IMP, and NAD+; filament assembly interface reconstruction
EMD-29482
Single-particle2.1 Å
Deposition: 18/01/2023Map released: 19/04/2023
Last modified: 06/11/2024
Sample Organism:
Homo sapiens
Sample: Filament of Inosine-5'-monophosphate dehydrogenase 2 - L245P mutant, bound to GTP, ATP, IMP, and NAD+
Fitted models: 8fuz
Deposition Authors: O'Neill AG
,
Kollman JM
Sample: Filament of Inosine-5'-monophosphate dehydrogenase 2 - L245P mutant, bound to GTP, ATP, IMP, and NAD+
Fitted models: 8fuz
Deposition Authors: O'Neill AG
,
Kollman JM
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
O'Neill AG ,
Burrell AL,
Zech M,
Elpeleg O,
Harel T,
Edvardson S,
Mor-Shaked H,
Rippert AL ,
Nomakuchi T ,
Izumi K,
Kollman JM
(2023) J Biol Chem , 299 , 105012 - 105012
,
Burrell AL,
Zech M,
Elpeleg O,
Harel T,
Edvardson S,
Mor-Shaked H,
Rippert AL ,
Nomakuchi T ,
Izumi K,
Kollman JM
(2023) J Biol Chem , 299 , 105012 - 105012
Secondary citations:
- O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Shaked HM, Rippert AL, Nomakuchi T, Izumi K & Kollman JM. (2023) Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure. bioRxiv,
- Zivanov J, Nakane T, Forsberg BO, Kimanius D, Hagen WJ, Lindahl E & Scheres SH. (2018) New tools for automated high-resolution cryo-EM structure determination in RELION-3. eLife, 7,
Grant Support: