Associated Papers
Retinopathy-associated inosine monophosphate dehydrogenase 1 mutations cause metabolic and filament defects in cones.
Rutter KM et al.
Disease Models & Mechanisms, 2025
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH et al.
Ophthalmic Genetics, 2023
37259572 (PubMed )
Supplement: supplement_1.pdf
Effect on cell survival and cytoophidium assembly of the adRP-10-related IMPDH1 missense mutation Asp226Asn.
Keppeke GD et al.
Frontiers in Cell and Developmental 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
Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions.
Plana-Bonamaisó A et al.
Elife, 2020
A Nucleotide-Dependent Conformational Switch Controls the Polymerization of Human IMP Dehydrogenases to Modulate their Catalytic Activity.
Fernández-Justel D et al.
Journal of Molecular Biology, 2019
Guanine nucleotide binding to the Bateman domain mediates the allosteric inhibition of eukaryotic IMP dehydrogenases.
Buey RM et al.
Nature Communications, 2015
IMP dehydrogenase-linked retinitis pigmentosa.
Hedstrom L
Nucleosides, Nucleotides & Nucleic Acids, 2008
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Wada Y et al.
Investigative Ophthalmology & Visual Science, 2005
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
Grover S et al.
Ophthalmology, 2004
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Berson EL et al.
Investigative Ophthalmology & Visual Science, 2001
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