Associated Papers
An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somite organization.
O'Neill AG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
An IMPDH2 variant associated with neurodevelopmental disorder disrupts purine biosynthesis and somitogenesis.
O'Neill AG et al.
Biorxiv : the Preprint Server for Biology, 2025
Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.
Sorrentino U et al.
Annals of Neurology, 2025
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
Flores-Mendez M et al.
Embo Reports, 2024
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
Flores-Mendez M et al.
Biorxiv : the Preprint Server for Biology, 2024
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
O'Neill AG et al.
The Journal of Biological Chemistry, 2023
Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
Lin J et al.
Journal of Neurology, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
O'Neill AG et al.
Biorxiv : the Preprint Server for Biology, 2023
IMPDH dysregulation in disease: a mini review.
Burrell AL et al.
Biochemical Society Transactions, 2022
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M et al.
The Lancet. Neurology, 2020
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