Associated Papers
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
IMPDH dysregulation in disease: a mini review.
Burrell AL et al.
Biochemical Society Transactions, 2022
Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions.
Plana-Bonamaisó A et al.
Elife, 2020
Guanine nucleotide binding to the Bateman domain mediates the allosteric inhibition of eukaryotic IMP dehydrogenases.
Buey RM et al.
Nature Communications, 2015
An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention.
Pradhan M et al.
Clinical & Experimental Ophthalmology, 2009
Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.
Tada A et al.
Molecular Vision, 2006
Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
Wada Y et al.
American Journal of Ophthalmology, 2005
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