Inosine-5'-monophosphate dehydrogenase 1 · UniProt P20839
IMPDH1 is a homotetrameric enzyme that catalyzes the rate-limiting step of de novo guanine nucleotide synthesis (IMP → XMP) and is the principal source of GTP in photoreceptors, where its loss in knockout mice produces slowly progressive retinal degeneration (PMID:11875050, PMID:14981049). The enzyme assembles into polymorphic filaments resolved by cryo-EM in extended high-activity and compressed low-activity states, and the retina expresses tissue-specific alternatively spliced and alternate-start isoforms bearing N/C-terminal extensions that raise Km/Ki, eliminate canonical NAD+ substrate inhibition, and reduce sensitivity to GTP feedback by stabilizing the extended filament form (PMID:16936083, PMID:35013599, PMID:33733369). Retinal activity is set by light-dependent phosphorylation: phosphorylation of Thr159/Ser160 in the Bateman domain during light desensitizes the enzyme to GDP/GTP feedback and coincides with filament formation and increased GTP/ATP synthesis, whereas phosphorylation at S477 in the dark re-sensitizes the enzyme to GTP inhibition and blocks high-activity filament assembly, the S477D phosphomimetic acting dominant-negatively on endogenous filaments (PMID:32254022, PMID:38323936). Missense mutations in the Bateman/CBS domain cause RP10 autosomal dominant retinitis pigmentosa; rather than abolishing catalysis, these mutations impair single-stranded nucleic acid binding and/or confer resistance to GDP/GTP feedback inhibition (e.g., Asp226Asn), and the dominant disease mechanism reflects protein misfolding, recruitment of wild-type subunits into hybrid tetramers, and toxic cytoophidium formation that reduces cell survival—a toxicity rescued by disrupting filament assembly (PMID:11875050, PMID:16384941, PMID:35013599, PMID:21791244, PMID:37731818). AAV-delivered mutant IMPDH1 reproduces the retinopathy in mice and is suppressed by shRNA knockdown, supporting a gain-of-function/dominant-negative basis (PMID:18385099). Beyond the retina, IMPDH1 expression is driven by c-Myc, MYBL2, and a P3-promoter CRE, its protein stabilized by IMPDH2, and it participates in cancer-associated circuits including a YB-1 positive-feedback loop and DNA-PK-dependent nuclear translocation supporting DNA-damage repair [PMID:32209435, PMID:36629054, PMID:36494680, PMID:17001353, PMID:bio_10.1101_2025.11.11.25340023].
Establishing the chromosomal location of human IMPDH1 provided the genetic anchor later needed to link the gene to an inherited retinal disease locus.
Evidence PCR of somatic cell hybrids and FISH
Identifying the Asp226Asn mutation in RP10 families connected this metabolic enzyme to autosomal dominant retinitis pigmentosa, raising the question of why a housekeeping enzyme causes a tissue-specific dominant disease.
Evidence Linkage mapping and sequencing across multiple families, conserved-residue analysis
Showing IMPDH1 is the dominant GTP source in photoreceptors and that mutants misfold rather than lose activity reframed the disease as a protein-conformation problem, not simple enzyme deficiency.
Evidence Retinal transcript analysis, Impdh1 knockout mouse ERG, recombinant expression, folding simulations
Demonstrating retina-enriched, retina-unique splice/start-site isoforms and showing disease mutants alter nucleic-acid binding rather than catalysis explained tissue specificity and pointed to a non-catalytic role for IMPDH1.
Evidence Northern/SAGE/IHC/Western isoform mapping; NADH enzymatic assays and filter-binding assays on seven mutants; P3 promoter CRE luciferase reporter
PMID:16384941 PMID:16936083 PMID:17001353
An AAV mouse model recapitulating retinopathy with mutant but not wild-type IMPDH1, and rescue by shRNA, confirmed a gain-of-function/dominant-negative mechanism amenable to knockdown therapy.
Evidence Subretinal AAV expression and shRNA rescue with ERG and histology
In vitro refolding of mixed wild-type/mutant tetramers showed mutant subunits impose their misfolded state on wild-type partners, providing a concrete dominant-negative recruitment mechanism.
Evidence Recombinant refolding and activity assays of equimolar WT/mutant mixtures
Linking D226N nucleic-acid binding loss to reduced polyribosome association suggested IMPDH1 contributes to posttranscriptional regulation of rhodopsin mRNA, a candidate non-catalytic retinal function.
Evidence Nucleic-acid binding and polyribosome fractionation (cited prior work)
Discovery of light-dependent Bateman-domain phosphorylation (Thr159/Ser160) that desensitizes feedback inhibition, coupled to filament formation and increased GTP flux, established a physiological logic for retinal IMPDH1 regulation tied to light exposure.
Evidence In vivo phosphoproteomics, metabolic flux, filament imaging, pharmacological IMPDH inhibition with ERG
Kinetic characterization of retinal isoforms showed terminal extensions raise Km/Ki, abolish NAD+ substrate inhibition, and alter oligomerization, explaining how retina-specific isoforms tune activity and assembly.
Evidence Recombinant kinetics, native PAGE, thioflavin T fibrillation, molecular dynamics
Cryo-EM of extended high-activity and compressed low-activity filaments, with retinal variants stabilizing the extended form and disease mutants partitioning into GTP-regulation-disrupting vs. neutral classes, provided the structural framework unifying regulation and disease.
Evidence Multiple cryo-EM structures with enzymatic GTP-inhibition validation and variant comparison
Genetic dissection of D226N showed cytoophidium assembly itself drives cytotoxicity—a Y12C filament-blocking mutation rescued survival—separating toxic filament formation from the mutation's GTP-regulation defect.
Evidence Stable cell lines, immunofluorescence, long-term survival assay, double-mutant analysis
Identification of c-Myc/MYBL2 transcriptional activation and IMPDH2-mediated stabilization of IMPDH1 protein revealed how IMPDH1 levels and GTP biosynthesis are amplified in cancer.
Evidence ChIP/transcriptional assays, Co-IP, ubiquitination and half-life assays in colorectal and hepatocellular models with xenografts
Showing S477 is phosphorylated in the dark to re-sensitize the enzyme to GTP inhibition and to selectively block the high-activity filament interface defined the antagonistic dark/light phosphorylation switch governing retinal GTP synthesis.
Evidence Phosphomimetic cryo-EM, GTP-inhibition assays, cell-based dominant-negative filament assays, bovine retina phosphoproteomics
DNA-PK-dependent nuclear translocation of IMPDH1 supplying GTP for DNA-damage repair extended IMPDH1's role beyond the retina to a druggable mediator of radiation resistance in glioblastoma.
Evidence Subcellular fractionation, DNA-PK epistasis, flux assays, orthotopic GBM models, phase 0 trial metabolomics (preprint)
PMID:bio_10.1101_2025.11.11.25340023
| Year | Finding | Method | Journal | Conf | PMIDs |
|---|---|---|---|---|---|
| 2002 | IMPDH1 encodes a homotetramer that catalyzes the rate-limiting step in de novo guanine nucleotide synthesis (IMP → XMP); the Asp226Asn missense mutation at a universally conserved residue causes the RP10 form of autosomal dominant retinitis pigmentosa. | DNA sequencing of affected families, linkage mapping, evolutionary conservation analysis | Human molecular genetics | High | 11875050 |
| 2006 | IMPDH1 disease-causing missense mutations (Thr116Met, Asp226Asn, Val268Ile, Gly324Asp, His372Pro, Arg105Trp, Asn198Lys) do not alter enzymatic activity but alter the affinity and/or specificity of single-stranded nucleic acid binding, as measured by filter-binding assays; the Gly324Asp variant is an exception and does not alter nucleic acid binding. | NADH fluorescence enzymatic assay; filter-binding assays for single-stranded nucleic acids | Investigative ophthalmology & visual science | High | 16384941 |
| 2004 | IMPDH1 is the primary source of GTP in photoreceptors (vs. IMPDH2 and HPRT-mediated salvage), shown by transcript analysis in retinal sections. Impdh1−/− null mice develop slowly progressive retinal degeneration with compromised electroretinographic responses. Expression of mutant IMPDH1 in bacterial and mammalian cells, combined with computational simulations, indicates protein misfolding and aggregation rather than reduced enzymatic activity is the likely disease mechanism. | Transcript analysis in mouse retinal sections; Impdh1 knockout mouse ERG; recombinant protein expression in bacterial and mammalian cells; computational folding simulations | Human molecular genetics | High | 14981049 |
| 2006 | IMPDH1 is expressed at higher levels in the retina than any other tested tissue, predominantly in the inner segments and synaptic terminals of photoreceptors. Human retina contains unique alternatively spliced and alternate-start-site IMPDH1 isoforms that encode distinct proteins not found in other tissues, and the proportions of these isoforms 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 mouse retina causes aggressive retinopathy modelling the human disease, whereas expression of normal human IMPDH1 has no pathological effect. AAV co-expression of shRNAs targeting both human and mouse IMPDH1 together with mutant IMPDH1 substantially suppresses photoreceptor loss caused by the mutant protein. | Recombinant AAV subretinal injection in mice; electroretinography; histology; shRNA knockdown validated in vitro and in vivo | Human molecular genetics | High | 18385099 |
| 2020 | Retinal IMPDH1 undergoes light-dependent phosphorylation at Thr159/Ser160 in the Bateman domain in vivo; this phosphorylation desensitizes the enzyme to allosteric inhibition by GDP/GTP. Bright-light exposure in mice increases the rate of GTP and ATP synthesis in the retina, coincident with IMPDH1 aggregate (filament) formation at the outer segment layer. Pharmacological inhibition of IMPDH activity in living mice delays rod recovery after light exposure. | Mass spectrometry phosphoproteomics of mouse retina; metabolic flux assays; immunofluorescence of IMPDH1 aggregates; pharmacological inhibition (IMPDH inhibitor) in vivo with ERG | eLife | High | 32254022 |
| 2022 | Human IMPDH1 assembles polymorphic filaments with distinct assembly interfaces in extended (high-activity) and compressed (low-activity) states, as resolved by cryo-EM. Retina-specific splice variants introduce structural elements that reduce sensitivity to GTP inhibition, including stabilization of the extended filament form. Disease mutations fall into two classes: one class disrupts GTP regulation (e.g., Asp226Asn confers resistance to GDP/GTP feedback inhibition), while the second class has no effect on GTP regulation or filament assembly. | Cryo-electron microscopy structures of IMPDH1 filaments; enzymatic assays with GTP inhibition; comparison of retinal splice variants vs. canonical isoform | Nature structural & molecular biology | High | 35013599 |
| 2024 | Phosphomimetic S477D mutation in retinal IMPDH1 splice variants re-sensitizes both IMPDH1(546) and IMPDH1(595) to GTP inhibition and specifically blocks assembly of the high-activity IMPDH1(595) filament interface (but not the low-activity IMPDH1(546) interface), as shown by cryo-EM. S477D exerts a dominant-negative effect in cells, preventing endogenous IMPDH filament assembly. In bovine retinas, S477 is preferentially phosphorylated in the dark, establishing phosphorylation at S477 as a mechanism for downregulating retinal GTP synthesis in the dark. | Phosphomimetic mutagenesis; cryo-EM structures; enzymatic GTP inhibition assays; cell-based dominant-negative filament assembly assay; bovine retina phosphoproteomics | The Journal of cell biology | High | 38323936 |
| 2011 | IMPDH1 clinical mutants R224P and D226N show impaired folding in vitro. In equimolar mixtures of normal and mutant IMPDH1, activity regain after refolding is close to the mutant level rather than the midpoint, indicating that mutant subunits impose their misfolded conformation on wild-type partners in hybrid tetramers (molecular recruitment), providing a mechanism for dominant-negative inheritance. | Recombinant protein expression; in vitro refolding assay; enzymatic activity measurement of mixed wild-type/mutant tetramers | Biochimica et biophysica acta | Medium | 21791244 |
| 2012 | The adRP mutation D226N reduces IMPDH1 binding to nucleic acids and reduces association with polyribosomes, suggesting a role for IMPDH1 in posttranscriptional regulation of rhodopsin mRNA in the retina. | Nucleic acid binding assays; polyribosome fractionation (referenced from prior experimental work) | Advances in experimental medicine and biology | Medium | 22183375 |
| 2010 | A novel IMPDH1 allozyme (Leu275) has approximately 10% of wild-type enzymatic activity, due to accelerated protein degradation rather than intrinsic catalytic impairment, as supported by X-ray crystal structure analysis. | Enzymatic activity assay; protein stability/degradation assay; structural analysis using IMPDH1 X-ray crystal structure | British journal of pharmacology | Medium | 20718729 |
| 2021 | Retinal IMPDH1 isoforms bearing C/N-terminal extensions (mIMPDH1(546) and mIMPDH1(603)) have higher Km and Ki values relative to the canonical isoform (mIMPDH1(514)), do not exhibit NAD+ substrate inhibition unlike the canonical isoform, and the retinal mIMPDH1(603) isoform shows lower fibrillation capacity under ATP but forms higher-mass oligomers in the presence of GTP and/or MPA. Molecular dynamic simulations indicate terminal peptides interact with the enzyme's finger domain affecting its pseudo barrel structure. | Recombinant protein kinetic assays; native PAGE oligomerization analysis; thioflavin T fibrillation assay; molecular dynamics simulation | Cell biochemistry and biophysics | Medium | 33733369 |
| 2019 | Mouse retinal IMPDH1 isoforms (mIMPDH1(546) and mIMPDH1(603)) show higher Km and Ki values than the canonical mIMPDH1(514), and molecular dynamics simulations indicate that terminal peptide extensions interact with the enzyme's finger domain affecting the critical pseudo-barrel structure. | Recombinant protein kinetic assays; enzymatic inhibition assays; molecular modeling and molecular dynamics simulation | Molecular and cellular biochemistry | Low | 31838626 |
| 2020 | IMPDH1 and YB-1 form an autoregulatory positive feedback loop in clear cell renal cell carcinoma: IMPDH1 maintains YB-1 protein stabilization, and YB-1 induces IMPDH1 expression by binding the IMPDH1 promoter. IMPDH1-assembled cytoophidia (filaments) physically interact with YB-1 and translocate YB-1 into the cell nucleus. | Co-immunoprecipitation; immunofluorescence; promoter binding assay; ChIP; YB-1 protein stability assay; nuclear fractionation | Molecular therapy | Medium | 32209435 |
| 2023 | IMPDH2 stabilizes IMPDH1 protein by decreasing its polyubiquitination levels. c-Myc transcriptionally activates both IMPDH1 and IMPDH2 to promote de novo GTP biosynthesis. | Co-immunoprecipitation; protein half-life assay; polyubiquitination assay; ChIP/transcriptional activation assay; colorectal cancer cell lines and xenograft models | Clinical and translational medicine | Medium | 36629054 |
| 2022 | MYBL2 directly binds the IMPDH1 promoter and transcriptionally activates IMPDH1 expression in hepatocellular carcinoma cells, as demonstrated by ChIP-seq and ChIP-qPCR. MYBL2 knockout reduces IMPDH1 expression and inhibits guanine nucleotide synthesis. | ChIP-seq; ChIP-qPCR; MYBL2 knockout; metabolomics; xenograft tumor models | BMC cancer | Medium | 36494680 |
| 2023 | The IMPDH1 Asp226Asn (D226N) mutation causes cytoophidium (filament) assembly in ~70% of HEp-2 cells and reduces long-term cell survival by ~40% compared to wild-type. Introduction of a secondary Y12C mutation disrupts filament assembly and significantly rescues cell survival (only ~10% decrease vs. WT), indicating that cytoophidium formation contributes to D226N cytotoxicity. D226N also confers resistance to feedback inhibition by GDP/GTP. | Stable cell line expression; immunofluorescence; long-term survival assay; double-mutant (Y12C/D226N) functional analysis | Frontiers in cell and developmental biology | Medium | 37731818 |
| 2006 | A 9-bp insertion in the IMPDH1 P3 promoter abolishes a cAMP-response element (CRE) and significantly reduces IMPDH1 P3 promoter activity in a luciferase reporter assay, identifying a transcriptional regulatory element controlling IMPDH1 expression. | Luciferase reporter gene assay; dHPLC and DNA sequencing | The pharmacogenomics journal | Medium | 17001353 |
| 1994 | The human IMPDH1 gene is located on chromosome 7q31.3-q32, established by PCR analysis of somatic cell hybrid panels and fluorescence in situ hybridization. | PCR of human-mouse and human-hamster somatic cell hybrids; FISH with metaphase chromosomes | Genomics | High | 7896275 |
| 2025 | Following radiation therapy, IMPDH1 translocates from the cytoplasm to the nucleus in glioblastoma cells in a DNA-PK-dependent manner, leading to nuclear GTP accumulation that promotes DNA damage repair and radiation resistance. Pharmacological inhibition of IMPDH with mycophenolate mofetil slows DNA damage repair, extends survival in orthotopic murine models with combined RT/TMZ, and achieves active intracranial drug concentrations in a human phase 0 clinical trial with reversal of IMPDH upstream/downstream metabolites. | Subcellular fractionation/imaging of IMPDH1 localization; DNA-PK inhibitor epistasis; metabolic flux assays; orthotopic murine GBM models with ERG/survival endpoints; phase 0 clinical trial with tumor metabolomics | bioRxivpreprint | Medium | bio_10.1101_2025.11.11.25340023 |
| 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 | 86 | 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 | 51 | 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 | 43 | 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 | 35 | 35013599 |
| 2010 | Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics. | British journal of pharmacology | 31 | 20718729 |
| 2008 | Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. | Molecular vision | 31 | 18552984 |
| 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 |
| 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 | 27 | 32209435 |
| 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 |
| 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 |
| 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 | 16 | 37215997 |
| 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 | 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 | 12 | 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 | 7 | 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 |
| 2026 | IMPDH1 is a potential immune evasion-related oncoprotein in endometrial cancer. | BMC genomic data | 0 | 42062899 |
| 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 |
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