Associated Papers
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
IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
Burrell AL et al.
Nature Structural & Molecular Biology, 2022
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
Kozma P et al.
American Journal of Ophthalmology, 2005
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