Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH2
Variant:p.D226N
Back to variants list

IMPDH2

NM_000884.3:p.D226N

Associated Papers

Rationally-Stabilized Inhibited State of IMPDH Proposes a Novel Targeting Approach Involving Its Cross-Domain and Assembly Suppression.

Sattari S et al.

Molecular Biotechnology, 2025

Light-sensitive phosphorylation regulates enzyme activity and filament assembly of human IMPDH1 retinal splice variants.

Calise SJ et al.

Biorxiv : the Preprint Server for Biology, 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

IMPDH1 retinal variants control filament architecture to tune allosteric regulation.

Burrell AL et al.

Nature Structural & Molecular Biology, 2022

Mutation frequency of IMPDH1 gene of Han population in Ganzhou City.

Shumei L et al.

Advances in Experimental Medicine and Biology, 2010

Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.

Spellicy CJ et al.

Advances in Experimental Medicine and Biology, 2010

IMP dehydrogenase-linked retinitis pigmentosa.

Hedstrom L

Nucleosides, Nucleotides & Nucleic Acids, 2008

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Bowne SJ et al.

Investigative Ophthalmology & Visual Science, 2006

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

Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding.

Mortimer SE et al.

The Biochemical Journal, 2005

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Aherne A et al.

Human Molecular Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."