Affinage

IMPDH1

Inosine-5'-monophosphate dehydrogenase 1 · UniProt P20839

Length
514 aa
Mass
55.4 kDa
Annotated
2026-04-28
54 papers in source corpus 19 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

IMPDH1 is the rate-limiting enzyme in de novo guanine nucleotide biosynthesis, functioning as a homotetramer that assembles into polymorphic filaments to modulate allosteric GTP feedback inhibition and tune nucleotide output to cellular demand (PMID:35013599, PMID:32254022). In the retina, where IMPDH1 is the dominant GTP source, retina-specific splice variants with N- and C-terminal extensions stabilize extended (high-activity) filament conformations, exhibit altered kinetics including loss of NAD+ substrate inhibition, and undergo light-dependent phosphorylation at Thr159/Ser160 and Ser477 that dynamically adjusts allosteric sensitivity and filament architecture to match illumination conditions (PMID:36936083, PMID:31838626, PMID:32254022, PMID:38323936). Missense mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa through two distinct mechanisms: one class disrupts GTP allosteric regulation and promotes toxic cytoophidium formation, while another impairs nucleic acid binding and causes dominant-negative misfolding within hybrid tetramers (PMID:11875050, PMID:16384941, PMID:35013599, PMID:21791244, PMID:37731818). Beyond catalysis, IMPDH1 moonlights as a single-stranded nucleic acid-binding protein associated with polyribosomes, forms cytoophidia that interact with YB-1 to promote its nuclear translocation, and itself translocates to the nucleus in a DNA-PK-dependent manner to support nuclear GTP synthesis for DNA repair (PMID:16384941, PMID:22183375, PMID:32209435).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2002 High

    Establishing that IMPDH1 mutations cause autosomal dominant retinitis pigmentosa (RP10) without altering enzymatic activity resolved the genetic basis of RP10 and raised the question of how catalytically normal mutants cause photoreceptor degeneration.

    Evidence DNA sequencing and linkage mapping in RP families; NADH fluorescence enzymatic assay of recombinant mutants

    PMID:11875050

    Open questions at the time
    • Mechanism by which catalytically normal mutants cause disease was unknown
    • No in vivo disease model yet established
    • No structural basis for mutations
  2. 2004 High

    Demonstrating that IMPDH1 is the principal GTP source in photoreceptors and that Impdh1 knockout causes progressive retinal degeneration established that GTP supply is critical for photoreceptor survival, while showing mutant protein misfolding/aggregation pointed to a dominant-negative or toxic gain-of-function mechanism.

    Evidence Impdh1-null mouse with ERG and histology; recombinant mutant protein expression in bacterial and mammalian cells

    PMID:14981049

    Open questions at the time
    • Whether misfolding occurs in hybrid tetramers with wild-type subunits was untested
    • Retina-specific isoforms not yet identified
  3. 2006 High

    Discovery that RP mutations alter nucleic acid binding affinity without affecting catalysis, and that retina-specific IMPDH1 splice variants exist, revealed a moonlighting function and tissue-specific molecular context that could explain why mutations selectively damage photoreceptors.

    Evidence Filter-binding assays for single-stranded nucleic acids with multiple RP mutants; Northern blot, immunohistochemistry, and transcript sequencing in human retina

    PMID:16384941 PMID:16936083

    Open questions at the time
    • Biological target RNAs in photoreceptors were unidentified
    • Whether nucleic acid binding is physiologically relevant in vivo was unproven
    • Functional significance of retina-specific isoforms was unknown
  4. 2008 High

    Showing that AAV-delivered mutant IMPDH1 is sufficient to cause retinal degeneration in vivo and that shRNA-mediated suppression is therapeutic confirmed a dominant gain-of-function disease mechanism and validated an RNA interference therapeutic strategy.

    Evidence AAV delivery of mutant/WT IMPDH1 and shRNA to mouse retina with ERG and histology

    PMID:18385099

    Open questions at the time
    • Molecular basis of toxicity (aggregation vs. nucleotide imbalance vs. nucleic acid binding) was unresolved
    • Long-term durability of gene therapy not assessed
  5. 2011 Medium

    Reconstitution of hybrid tetramers showed that mutant subunits impose faulty conformation on wild-type partners, providing a molecular explanation for autosomal dominant inheritance through a dominant-negative mechanism.

    Evidence In vitro refolding and activity assays of mixed normal/mutant recombinant IMPDH1 tetramers

    PMID:21791244

    Open questions at the time
    • Hybrid tetramer formation not confirmed in cells or in vivo
    • Contribution of dominant-negative effect relative to gain-of-function aggregation not quantified
  6. 2019 Medium

    Kinetic characterization of retina-specific IMPDH1 isoforms with terminal extensions revealed distinct enzymatic properties—higher Km/Ki values and loss of NAD+ substrate inhibition—explaining why the retina requires specialized isoforms for sustained GTP production.

    Evidence Kinetic analysis of recombinant murine IMPDH1 isoforms (mIMPDH1-514, -546, -603); molecular dynamics simulation

    PMID:31838626

    Open questions at the time
    • In vivo functional consequence of isoform-specific kinetics was untested
    • Structural basis for altered kinetics awaited high-resolution structures
  7. 2020 High

    In vivo demonstration that light-dependent phosphorylation at Thr159/Ser160 desensitizes IMPDH1 to GTP inhibition, with concomitant filament formation and increased nucleotide synthesis in bright light, established a direct mechanism coupling illumination to retinal GTP homeostasis.

    Evidence Phosphoproteomics, retinal metabolite measurements under light/dark, confocal imaging of filaments, pharmacological IMPDH inhibition with ERG in living mice

    PMID:32254022

    Open questions at the time
    • Kinase(s) responsible for Thr159/Ser160 phosphorylation were unidentified
    • Relationship between filament formation and phosphorylation at other sites was unclear
  8. 2020 Medium

    Discovery that IMPDH1 cytoophidia physically interact with YB-1, promote its nuclear translocation, and that YB-1 reciprocally activates IMPDH1 transcription revealed a positive feedback loop linking IMPDH1 filament biology to gene regulation.

    Evidence Co-immunoprecipitation, immunofluorescence, ChIP/promoter binding assay in renal carcinoma cells

    PMID:32209435

    Open questions at the time
    • Whether the IMPDH1–YB-1 loop operates in photoreceptors or normal physiology is unknown
    • Mechanism by which cytoophidia translocate YB-1 is unclear
    • Single Co-IP study without reciprocal validation in independent labs
  9. 2022 High

    Cryo-EM structures of IMPDH1 filaments revealed extended and compressed conformational states with distinct assembly interfaces, showed that retina-specific splice elements stabilize the extended (high-activity) form, and classified RP mutations into two mechanistic categories—GTP regulation-disrupting and GTP regulation-neutral.

    Evidence Cryo-electron microscopy of filaments from canonical and retinal splice variants; biochemical activity assays; mapping of disease mutations

    PMID:35013599

    Open questions at the time
    • Structural basis for the GTP-regulation-neutral class of RP mutations was not resolved
    • In vivo relevance of specific filament conformations in photoreceptors was undemonstrated
  10. 2023 Medium

    Genetic epistasis experiments showed that the D226N RP mutation causes both GTP feedback resistance and toxic cytoophidium formation, and that a secondary filament-disrupting mutation partially rescues cell survival, disentangling nucleotide imbalance from filament toxicity.

    Evidence Stable expression in HEp-2 cells, long-term survival assay, double-mutant (Y12C) rescue of D226N filament assembly

    PMID:37731818

    Open questions at the time
    • Rescue experiment performed in non-retinal cell line
    • Relative contribution of nucleotide imbalance versus filament toxicity not fully quantified in photoreceptors
  11. 2024 High

    Identification of S477 as a dark-phosphorylated regulatory site that re-sensitizes retinal IMPDH1 to GTP inhibition and blocks high-activity filament assembly in an isoform-specific manner completed the model of bidirectional phospho-regulation of retinal GTP synthesis across the light–dark cycle.

    Evidence Phosphomimetic mutagenesis (S477D), cryo-EM structures of filament interfaces, enzymatic assays, cell-based filament assembly assays

    PMID:38323936

    Open questions at the time
    • Identity of the S477 kinase and phosphatase is unknown
    • How Thr159/Ser160 and S477 phosphorylation are coordinated in vivo is unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the identity of kinases/phosphatases controlling IMPDH1 phosphorylation in photoreceptors, the physiological RNA targets of IMPDH1's nucleic acid-binding function, and whether nuclear translocation and nuclear GTP synthesis for DNA repair represent a general IMPDH1 function across tissues.
  • Kinases/phosphatases for S477 and T159/S160 unidentified
  • No validated endogenous RNA targets in photoreceptors
  • Nuclear translocation for DNA repair shown only in glioblastoma preprint, awaits peer review and replication in other cell types

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 5 GO:0003723 RNA binding 2 GO:0005198 structural molecule activity 2
Localization
GO:0005829 cytosol 3 GO:0005634 nucleus 1
Pathway
R-HSA-1430728 Metabolism 7 R-HSA-9709957 Sensory Perception 4 R-HSA-1643685 Disease 3
Partners
IMPDH2MYBL2MYCTWIST1YBX1
Complex memberships
IMPDH1 cytoophidium (filament)IMPDH1 homotetramer

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 IMPDH1 encodes the rate-limiting enzyme in de novo guanine nucleotide biosynthesis, functioning as a homotetramer; missense mutations (e.g., Asp226Asn, Val268Ile) in the catalytic domain cause the RP10 form of autosomal dominant retinitis pigmentosa without altering enzymatic activity. DNA sequencing, linkage mapping, identification of mutations in affected individuals; enzymatic activity assay (NADH fluorescence); conservation analysis Human molecular genetics High 11875050
2004 IMPDH1 is the primary source of GTP in photoreceptors (versus IMPDH2 and HPRT); Impdh1 knockout mice display slowly progressive retinal degeneration; mutant IMPDH1 proteins expressed in bacterial and mammalian cells show misfolding and aggregation rather than reduced enzyme activity, suggesting protein misfolding/aggregation as the disease mechanism. Impdh1 null mouse (electroretinography, histology), retinal section expression analysis, recombinant protein expression in bacterial/mammalian cells, computational simulation Human molecular genetics High 14981049
2006 Retinitis pigmentosa-associated IMPDH1 missense mutations (Thr116Met, Asp226Asn, Val268Ile, His372Pro, Arg105Trp, Asn198Lys) do not alter enzymatic activity but alter the affinity and/or specificity of IMPDH1 for single-stranded nucleic acids, implicating nucleic acid binding as a distinct moonlighting function of IMPDH1. Enzymatic activity assay (NADH fluorescence production), filter-binding assays for single-stranded nucleic acid binding Investigative ophthalmology & visual science High 16384941
2006 In human retina, IMPDH1 is expressed at higher levels than any other tissue tested and is localized predominantly to inner segments and synaptic terminals of photoreceptors; alternative splicing and alternative translational start sites produce retina-specific IMPDH1 isoforms (distinct proteins) not found in other tissues, and the proportions of transcripts/proteins differ between human and mouse retina. Northern blot, SAGE, immunohistochemistry, transcript sequencing, Western blot Investigative ophthalmology & visual science High 16936083
2008 AAV-mediated expression of mutant human IMPDH1 in the mouse retina causes an aggressive retinopathy, while expression of normal IMPDH1 has no pathological effect; AAV-mediated co-expression of shRNA targeting both human and mouse IMPDH1 together with mutant IMPDH1 substantially suppresses retinal degeneration, demonstrating that mutant IMPDH1 is sufficient to cause retinopathy and that suppression of mutant transcript is therapeutic. Recombinant AAV delivery to mouse retina, in vivo shRNA knockdown, electroretinography, histology Human molecular genetics High 18385099
2010 The IMPDH1 Leu275 variant allozyme has ~10% of wild-type enzymatic activity due to accelerated protein degradation, as supported by the IMPDH1 X-ray crystal structure; decreased activity of certain IMPDH1 allozymes results from reduced protein quantity caused by accelerated degradation, not from altered catalytic mechanism. Enzymatic activity assay, protein degradation assay, X-ray crystal structure analysis British journal of pharmacology Medium 20718729
2011 Recombinant IMPDH1 clinical mutants R224P and D226N show impaired folding in vitro; in equimolar mixtures of normal and mutant enzymes, mutant subunits impose their faulty conformation on normal partners in hybrid tetramers (molecular recruitment/dominant-negative mechanism), potentially explaining autosomal dominant inheritance of RP10. In vitro refolding assay of recombinant IMPDH1, activity assay of mixed normal/mutant tetramers Biochimica et biophysica acta Medium 21791244
2012 IMPDH1's function in the retina, apparently independent of enzymatic activity, is mediated by retina-specific variants and may involve posttranscriptional regulation of rhodopsin mRNA; the adRP mutation D226N reduces binding to nucleic acids and reduces association with polyribosomes. Filter-binding assays, polyribosome association assay Advances in experimental medicine and biology Medium 22183375
2019 Retina-specific IMPDH1 isoforms (mIMPDH1-546 and mIMPDH1-603) with C- and N-terminal extensions show higher Km and Ki values relative to the canonical isoform (mIMPDH1-514), do not exhibit NAD+ substrate inhibition unlike the canonical isoform, and the terminal segments interact with the enzyme's finger domain affecting its pseudo-barrel structure, as shown by molecular dynamics simulation. Kinetic analysis of recombinant murine IMPDH1 isoforms, molecular dynamics simulation Molecular and cellular biochemistry Medium 31838626
2020 In vivo, retinal IMPDH1 undergoes light-dependent phosphorylation at Thr159/Ser160 within the Bateman domain, which desensitizes the enzyme to allosteric inhibition by GDP/GTP; exposure to bright light increases GTP and ATP synthesis rates in mouse retinas concomitantly with IMPDH1 aggregate (filament) formation at the outer segment layer; inhibiting IMPDH activity in living mice delays rod mass recovery after light bleaching. In vivo phosphorylation mapping, metabolite measurements in mouse retina under light/dark conditions, confocal imaging of filament formation, pharmacological inhibition of IMPDH in living mice with ERG readout eLife High 32254022
2020 IMPDH1 forms cytoophidia (intracellular filamentous structures) that physically interact with YB-1 and translocate YB-1 into the cell nucleus; IMPDH1 maintains YB-1 protein stabilization, while YB-1 induces IMPDH1 expression by binding to the IMPDH1 promoter, forming a positive feedback loop associated with renal cell carcinoma metastasis. Immunofluorescence, co-immunoprecipitation, ChIP/promoter binding assay, YB-1 nuclear translocation assay Molecular therapy Medium 32209435
2021 The major mouse retinal IMPDH1 isoform (mH1603) with terminal extensions shows higher catalytic activity and lower fibrillation capacity in the presence of ATP compared to the canonical isoform; in the presence of GTP and/or MPA, the retinal isoform forms higher mass oligomerization products. Kinetic analysis of recombinant IMPDH1 isoforms, oligomerization assay, molecular simulation Cell biochemistry and biophysics Medium 33733369
2022 Cryo-EM structures reveal that human IMPDH1 assembles polymorphic filaments with distinct extended and compressed state assembly interfaces; retina-specific splice variants introduce structural elements that stabilize the extended (high-activity) filament form and reduce sensitivity to GTP inhibition; RP disease mutations fall into two classes—one disrupts GTP regulation and the other has no effect on GTP regulation or filament assembly. Cryo-electron microscopy, biochemical activity assays, analysis of disease mutations and splice variants Nature structural & molecular biology High 35013599
2022 IMPDH2 stabilizes IMPDH1 by decreasing its polyubiquitination levels; c-Myc transcriptionally activates IMPDH1/2 to promote de novo GTP biosynthesis and colorectal cancer growth. Co-immunoprecipitation, protein half-life assay (cycloheximide chase), polyubiquitination assay, ChIP/reporter assay, xenograft model Clinical and translational medicine Medium 36629054
2023 The adRP-10 IMPDH1 mutation Asp226Asn (D226N) causes cytoophidium assembly in ~70% of cells and confers resistance to feedback inhibition by GDP/GTP; long-term expression of IMPDH1-D226N decreases cell survival by ~40%; introducing a secondary mutation Y12C that disrupts filament assembly significantly recovers cell survival, establishing that both nucleotide imbalance and toxic cytoophidium contribute to IMPDH1-D226N pathology. Stable expression in HEp-2 cells, immunofluorescence for cytoophidium, long-term cell survival assay, double-mutant genetic rescue experiment Frontiers in cell and developmental biology Medium 37731818
2023 MYBL2 transcriptionally activates IMPDH1 by direct binding to its promoter, promoting de novo GTP synthesis and hepatocellular carcinoma cell proliferation; knockout of MYBL2 retards IMPDH1 expression, reduces guanine nucleotide pools (metabolomics), and inhibits tumor growth in xenograft models. ChIP-seq, ChIP-qPCR, metabolomics, MYBL2 knockout, xenograft tumor model BMC cancer Medium 36494680
2023 LncRNA UCA1 recruits the transcription factor TWIST1 to the IMPDH1 promoter, increasing IMPDH1 transcription and guanine nucleotide production in bladder cancer cells, thereby stimulating RNA polymerase-dependent pre-ribosomal RNA production and GTPase activity. ChIP assay for TWIST1 binding at IMPDH1 promoter, reporter assay, guanine nucleotide metabolite measurement, functional cell assays (proliferation, migration) International journal of biological sciences Medium 37215997
2024 Phosphorylation of IMPDH1 at S477 (preferentially phosphorylated in the dark in bovine retinas) acts as a mechanism to downregulate retinal GTP synthesis: phosphomimetic S477D mutation re-sensitizes both IMPDH1(546) and IMPDH1(595) variants to GTP inhibition; cryo-EM structures show S477D specifically blocks the high-activity filament assembly interface of IMPDH1(595) while allowing low-activity IMPDH1(546) filament assembly; S477D exerts a dominant-negative effect in cells, preventing endogenous IMPDH filament assembly. Phosphomimetic mutagenesis, cryo-EM structure determination, in vitro enzymatic activity assay, cell-based filament assembly assay The Journal of cell biology High 38323936
2025 Following radiation therapy, IMPDH1 translocates to the nucleus in glioblastoma cells in a DNA-PK-dependent manner, driving nuclear GTP accumulation that promotes DNA damage repair; pharmacological inhibition of IMPDH with mycophenolate mofetil slows DNA damage repair and extends survival in orthotopic murine GBM models. Subcellular fractionation/immunofluorescence for nuclear translocation, metabolite measurements (nuclear GTP), DNA-PK inhibition epistasis, orthotopic murine GBM survival assay, phase 0 clinical trial with metabolite measurement in human tumors bioRxivpreprint Medium bio_10.1101_2025.11.11.25340023

Source papers

Stage 0 corpus · 54 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Human molecular genetics 191 11875050
2006 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Investigative ophthalmology & visual science 126 16384941
2007 IMPDH1 gene polymorphisms and association with acute rejection in renal transplant patients. Clinical pharmacology and therapeutics 85 17851563
2004 On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. Human molecular genetics 84 14981049
2006 Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Investigative ophthalmology & visual science 50 16936083
2008 Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). Human molecular genetics 49 18385099
2006 IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance. The pharmacogenomics journal 47 17001353
2020 Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions. eLife 42 32254022
2005 Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Investigative ophthalmology & visual science 36 15851576
2022 IMPDH1 retinal variants control filament architecture to tune allosteric regulation. Nature structural & molecular biology 34 35013599
2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Molecular vision 31 18552984
2010 Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics. British journal of pharmacology 30 20718729
2008 Expression of IMPDH1 and IMPDH2 after transplantation and initiation of immunosuppression. Transplantation 30 18192912
2010 Correlation of IMPDH1 gene polymorphisms with subclinical acute rejection and mycophenolic acid exposure parameters on day 28 after renal transplantation. Basic & clinical pharmacology & toxicology 29 20136638
1995 Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. Human genetics 26 7814030
1995 Structure and regulation of a Candida albicans RP10 gene which encodes an immunogenic protein homologous to Saccharomyces cerevisiae ribosomal protein 10. Journal of bacteriology 26 7868597
2020 IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors. Molecular therapy : the journal of the American Society of Gene Therapy 25 32209435
2004 Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells. Biochemical and biophysical research communications 23 15555553
2004 A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Ophthalmology 21 15465556
2009 Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. Drug metabolism and pharmacokinetics 20 20045992
2012 Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa. Advances in experimental medicine and biology 18 22183375
2005 Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. American journal of ophthalmology 18 16214101
1996 Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome research 17 8723719
2007 Real-time PCR determination of IMPDH1 and IMPDH2 expression in blood cells. Clinical chemistry 16 17463174
2005 Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Ophthalmic genetics 16 16272056
2023 LncRNA UCA1 Participates in De Novo Synthesis of Guanine Nucleotides in Bladder Cancer by Recruiting TWIST1 to Increase IMPDH1/2. International journal of biological sciences 15 37215997
2023 c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming. Clinical and translational medicine 14 36629054
2020 Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1). Translational vision science & technology 14 32821486
2008 Expression of IMPDH1 is regulated in response to mycophenolate concentration. International immunopharmacology 14 19010451
1994 Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32). Genomics 14 7896275
2023 Effect on cell survival and cytoophidium assembly of the adRP-10-related IMPDH1 missense mutation Asp226Asn. Frontiers in cell and developmental biology 12 37731818
2021 Terminal Peptide Extensions Augment the Retinal IMPDH1 Catalytic Activity and Attenuate the ATP-induced Fibrillation Events. Cell biochemistry and biophysics 12 33733369
2021 Influence of SLCO1B1 521T>C, UGT2B7 802C>T and IMPDH1 -106G>A Genetic Polymorphisms on Mycophenolic Acid Levels and Adverse Reactions in Chinese Autoimmune Disease Patients. Pharmacogenomics and personalized medicine 11 34188518
2005 Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa. American journal of ophthalmology 11 16038673
2019 The functional impact of the C/N-terminal extensions of the mouse retinal IMPDH1 isoforms: a kinetic evaluation. Molecular and cellular biochemistry 10 31838626
2011 Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa. Biochimica et biophysica acta 9 21791244
2022 MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells. BMC cancer 8 36494680
2024 Light-sensitive phosphorylation regulates retinal IMPDH1 activity and filament assembly. The Journal of cell biology 6 38323936
2010 Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. Advances in experimental medicine and biology 5 20238057
2006 Expression analysis of IGFBP-rP10, IGFBP-like and Mig30 in early Xenopus development. Developmental dynamics : an official publication of the American Association of Anatomists 5 16894599
2024 Lower ratio of IMPDH1 to IMPDH2 sensitizes gliomas to chemotherapy. Cancer gene therapy 3 38871858
2023 IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search. Ophthalmic genetics 3 37259572
2010 Protection of photoreceptors in a mouse model of RP10. Advances in experimental medicine and biology 3 20238059
2024 Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic. Current eye research 2 38604988
2023 The Role of Purine Metabolism-Related Genes PPAT and IMPDH1 in the Carcinogenesis of Intrahepatic Cholangiocarcinoma Based on Metabonomic and Bioinformatic Analyses. Journal of oncology 2 36711025
2010 Mutation frequency of IMPDH1 gene of Han population in Ganzhou City. Advances in experimental medicine and biology 2 20238028
2024 Radiation-induced upregulation of FGL1 promotes esophageal squamous cell carcinoma metastasis via IMPDH1. BMC cancer 1 38702629
2023 Insights on the conformation and appropriate drug-target sites on retinal IMPDH1 using the 604-aa isoform lacking the C-terminal extension. Research in pharmaceutical sciences 1 39005562
2026 Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant. Documenta ophthalmologica. Advances in ophthalmology 0 41691573
2026 Grape seed proanthocyanidin extract suppresses bladder cancer by dual blockade of IMPDH1/2-mediated purine and pyrimidine nucleotide biosynthesis. Journal of ethnopharmacology 0 41962611
2025 Impdh1 was identified as a key protein promotes diabetic vasculopathy by intervention of vascular endothelial cell pyroptosis. BMC cardiovascular disorders 0 40082765
2024 [Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 38565512
2023 Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance. International journal of molecular sciences 0 37569264
2023 Light-sensitive phosphorylation regulates enzyme activity and filament assembly of human IMPDH1 retinal splice variants. bioRxiv : the preprint server for biology 0 37790411