Affinage

CHM

Rab proteins geranylgeranyltransferase component A 1 · UniProt P24386

Length
653 aa
Mass
73.5 kDa
Annotated
2026-06-09
100 papers in source corpus 13 papers cited in narrative 13 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CHM encodes REP-1 (Rab Escort Protein 1), an essential component of the Rab geranylgeranyltransferase (RabGGTase/GGTase-II) machinery that presents newly synthesized Rab GTPases for post-translational geranylgeranylation (PMID:11489211). REP-1 captures Rab GTPases through their Switch 1 and Switch 2 regions on a dedicated Rab binding platform, while its mobile C-terminal lid coordinates the Rab C terminus over a conserved hydrophobic patch (PMID:15186776). REP-1 binds the GDP-bound conformation with substantially higher affinity than the GTP-bound form, driven by differential dissociation rates (PMID:9563513), and then recruits RabGGTase: the enzyme forms a stable ternary complex with the Rab-REP-1 assembly, recognizing the overall complex shape rather than a Rab C-terminal sequence motif (PMID:10491170). Phosphoisoprenoids such as geranylgeranyl pyrophosphate dramatically strengthen the REP-1·RabGGTase interaction, and Rab can join this RabGGTase·GGpp·REP-1 assembly without REP-1 dissociation, defining a kinetically competent prenylation intermediate (PMID:11675392). Because Rab proteins compete for limiting REP, loss of REP-1 produces selective under-prenylation of specific Rabs such as Rab27A (PMID:15186776), with Rab- and tissue-specific consequences demonstrated genetically through the RAB-27 pathway (PMID:19090809). In retinal pigment epithelium, REP-1 depletion impairs phagosome-lysosome fusion—reducing phagosomal acidification, delaying photoreceptor outer-segment clearance, lowering association with late-endosomal markers Rab7 and LAMP-1, and altering cytokine secretion (PMID:19741243, PMID:20027300). Loss-of-function CHM mutations spanning splice-site defects, promoter mutations, and retrotransposon insertions abolish REP-1 expression and cause choroideremia (PMID:28271586, PMID:32441177, PMID:9678418), and lentiviral re-expression of REP-1 in CHM RPE restores prenylation activity in vivo (PMID:22228595).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1998 High

    Established that REP-1 discriminates Rab nucleotide state, answering how it selects substrate Rabs for prenylation by preferentially engaging the GDP-bound form.

    Evidence Fluorescence kinetics with GDP/GTP analogs at the Rab7 active site, resolving on/off rates

    PMID:9563513

    Open questions at the time
    • Tested only with Rab7; nucleotide preference across the broader Rab family not mapped
    • Does not address how preference impacts in vivo prenylation efficiency
  2. 1999 High

    Defined how RabGGTase recognizes its substrate, showing the enzyme reads the overall Rab-REP-1 complex rather than a C-terminal motif and binds independent of nucleotide state.

    Evidence Quantitative fluorescence binding assays, gel filtration, and Rab7 C-terminal mutagenesis in vitro

    PMID:10491170

    Open questions at the time
    • Reconstituted with Rab7 only
    • Does not capture the catalytic transfer step itself
  3. 2001 High

    Identified the catalytically productive prenylation intermediate, resolving the order of assembly by showing GGpp strengthens REP-1·RabGGTase binding and Rab joins without REP-1 dissociation.

    Evidence Affinity precipitation, gel filtration, and fluorescence kinetics with quantitative Kd measurements

    PMID:11675392

    Open questions at the time
    • Post-prenylation membrane delivery step not biochemically dissected
    • Single Rab substrate examined
  4. 2001 Medium

    Placed REP-1 within the GDI/CHM superfamily and the GGTase-II complex, framing its functional role in Rab recycling and membrane targeting.

    Evidence Comparative structural and biochemical synthesis of existing data (review/analysis)

    PMID:11489211

    Open questions at the time
    • Synthesis rather than primary experiment
    • Functional overlap/distinction with GDI not experimentally resolved here
  5. 2004 High

    Revealed the structural basis of Rab capture and explained selective Rab27A accumulation in choroideremia through inter-Rab competition for limiting REP.

    Evidence X-ray crystallography of REP-1:Rab7 plus semisynthetic fluorescent Rab27A prenylation assays

    PMID:15186776

    Open questions at the time
    • Structure used Rab7/Rab27A; not all Rab substrates characterized
    • Cellular consequences of differential competition not directly tested in RPE
  6. 2008 Medium

    Demonstrated Rab- and tissue-specific requirements for REP-1 in vivo, showing it acts through the RAB-27 (not RAB-3) pathway for synaptic transmission.

    Evidence C. elegans rep-1 mutant genetics, epistasis with rab-3/rab-27 mutants, behavioral assays, binding studies

    PMID:19090809

    Open questions at the time
    • Ortholog system may not fully reflect human Rab specificity
    • Mechanism of pathway selectivity at molecular level unresolved
  7. 2009 Medium

    Connected REP-1 loss to a defined cellular trafficking defect, showing it is required for phagosome-lysosome fusion and proper cytokine secretion in disease-relevant cells.

    Evidence siRNA knockdown in human fetal RPE and functional assays in CHM patient primary cells (pH, proteolysis, co-localization, ELISA, microarray)

    PMID:19741243 PMID:20027300

    Open questions at the time
    • Which specific under-prenylated Rabs drive each defect not pinpointed
    • Link from RPE trafficking defect to photoreceptor/choroid degeneration not directly established
  8. 2012 Medium

    Provided causal proof that restoring REP-1 corrects the biochemical defect, showing gene delivery rescues prenylation in vivo.

    Evidence Lentiviral CHM/REP-1 delivery to CHM mouse RPE with in vitro prenylation assay and unprenylated-Rab immunoblot

    PMID:22228595

    Open questions at the time
    • Biochemical rescue shown; functional/structural retinal rescue not established here
    • Durability and efficiency of correction not quantified long-term
  9. 2017 Medium

    Extended the loss-of-function mutational spectrum to non-coding regulatory defects, defining a functional CHM promoter whose mutation abolishes expression.

    Evidence Whole-genome sequencing, patient mRNA/protein analysis, luciferase reporter assays with promoter constructs

    PMID:28271586

    Open questions at the time
    • Single lab, two families
    • Transcription factors binding the c.-119 to c.-76 region not identified
  10. 2020 Medium

    Identified retrotransposon insertion as a novel loss-of-function mechanism, broadening the molecular causes of REP-1 deficiency.

    Evidence Patient lymphoblastoid cells, RT-PCR/sequencing of CHM transcript, REP-1 immunoblot

    PMID:32441177

    Open questions at the time
    • Single case
    • Frequency of such insertions in CHM populations unknown
  11. 2022 Low

    Raised the possibility that some in-frame CHM variants act by a dominant-negative mechanism rather than simple loss of expression.

    Evidence Exome sequencing, mRNA analysis, and molecular modeling of the REP-1/Rab/RGGT ternary complex

    PMID:35886051

    Open questions at the time
    • Dominant-negative mechanism inferred from modeling only; no biochemical validation of mutant binding or sequestration
    • Cellular dominant-negative activity not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How loss of REP-1-dependent prenylation in RPE mechanistically propagates to progressive photoreceptor and choroidal degeneration remains unresolved.
  • The full set of Rab substrates whose under-prenylation drives disease is not defined
  • Causal chain from RPE trafficking failure to photoreceptor/choroid loss not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 4 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 2
Localization
GO:0005829 cytosol 3
Pathway
R-HSA-392499 Metabolism of proteins 3 R-HSA-5653656 Vesicle-mediated transport 2
Partners
RAB27ARAB7ARABGGTARABGGTB
Complex memberships
RabGGTase (GGTase-II) complex

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 Crystal structure of REP-1 in complex with monoprenylated or C-terminally truncated Rab7 revealed that Rab7 interacts with the Rab binding platform of REP-1 via Switch 1 and 2 regions; the C terminus of REP-1 functions as a mobile lid covering a conserved hydrophobic patch that coordinates the Rab C terminus in the complex. Using semisynthetic fluorescent Rab27A, Rab27A can be prenylated by REP-2 but this reaction is effectively inhibited by other Rab proteins competing for REP, providing a mechanistic explanation for accumulation of unprenylated Rab27A in choroideremia. X-ray crystallography (crystal structure of REP-1:Rab7 complex), semisynthetic fluorescent Rab27A prenylation assay Cell High 15186776
1999 RabGGTase forms a stable ternary complex with Rab7-REP-1 independent of the lipid substrate geranylgeranyl pyrophosphate, with a Kd of ~120 nM; association rate constant ~10^8 M^-1 s^-1. The nucleotide state of Rab7 (GDP vs GTP) does not influence RabGGTase affinity for the Rab7-REP-1 complex. Rab7 C-terminal truncation or mutation of the last 16 amino acids only modestly reduces RabGGTase binding, demonstrating that RabGGTase recognizes the overall Rab-REP complex structure rather than a C-terminal sequence motif. Fluorescence binding assays (three independent assays), gel filtration, Rab7 C-terminal mutagenesis European journal of biochemistry High 10491170
1998 REP-1 binds the GDP-bound form of Rab7 with higher affinity (Kd=1 nM) than the GTP-bound form (Kd=20 nM); the difference arises from differential dissociation rates (0.012 s^-1 for GDP form vs 0.2 s^-1 for GTP form). The association reaction with Rab7·GDP proceeds in two steps: a fast bimolecular step (k+1 ~10^7 M^-1 s^-1) followed by a slow conformational equilibration. Fluorescence kinetics using GDP and GTP analogs at the Rab7 active site FEBS letters High 9563513
2001 REP-1 can associate with RabGGTase in the absence of Rab protein, and this interaction is dramatically strengthened by the presence of phosphoisoprenoids such as geranylgeranyl pyrophosphate (GGpp); in the presence of GGpp the Kd is ~10 nM, while in its absence affinity is in the micromolar range. Binding of Rab7 to the RabGGTase·GGpp·REP-1 complex occurs without prior dissociation of REP-1, identifying the RabGGTase·GGpp·REP-1 complex as a kinetically competent prenylation intermediate. Affinity precipitation, gel filtration, fluorescence-based binding assays, kinetic analysis The Journal of biological chemistry High 11675392
2001 CHM/REP-1 is an essential component of the catalytic geranylgeranyltransferase II (GGTase-II) complex that presents newly synthesized Rab GTPases for post-translational geranylgeranylation; CHM/REP family members are structurally and functionally related to GDI family proteins, forming the GDI/CHM superfamily involved in Rab recycling and membrane targeting. Biochemical and structural analyses synthesizing existing data; comparative structural analysis Traffic (Copenhagen, Denmark) Medium 11489211
2009 siRNA knockdown of REP-1 in human fetal RPE cells did not affect photoreceptor outer segment (POS) internalization but reduced phagosomal acidification and delayed POS protein clearance. REP-1 depletion decreased association of POS-containing phagosomes with late endosomal markers (Rab7, LAMP-1) and increased secretion of MCP-1 and IL-8, indicating REP-1 is required for phagosome-lysosome fusion in RPE cells. siRNA knockdown in human fetal RPE cells; measurement of phagosomal pH, POS rhodopsin proteolysis, phagosome-endosome co-localization by immunofluorescence, ELISA for cytokine secretion Investigative ophthalmology & visual science High 19741243
2009 Primary monocytes and fibroblasts from CHM patients with loss-of-function REP-1 mutations showed increased lysosomal pH, reduced rates of proteolytic degradation, and altered secretion of cytokines/growth factors (reduced MCP-1, PEDF, TNF-alpha, FGF-beta, IL-8). Gene expression microarray revealed dysregulation of genes involved in immune response, small GTPase regulation, and exocytosis in CHM patient cells. Functional assays in patient-derived primary cells: pHrodo bioparticle phagocytosis, fluorescent bead tracking, DQ-ovalbumin proteolysis assay; ELISA for secreted proteins; microarray gene expression PloS one Medium 20027300
2012 Lentiviral delivery of CHM/REP-1 cDNA to CHM mouse RPE cells in vivo restored prenylation activity (measured by in vitro prenylation assay) and decreased the amount of unprenylated Rab proteins in CHM mouse RPE, demonstrating functional rescue of the REP-1 prenylation defect. Lentiviral transduction of mouse RPE (subretinal injection); in vitro prenylation assay; immunoblotting for unprenylated Rabs; immunofluorescence and confocal microscopy The journal of gene medicine Medium 22228595
2008 In C. elegans, REP-1 disruption causes a mild defect in synaptic transmission and defecation; genetic epistasis using exocytic Rab mutants showed REP-1 functions specifically in the RAB-27 pathway, not the RAB-3 pathway, for synaptic transmission at neuromuscular junctions. Disruption of REP-1 did not impair RAB-27 in the defecation pathway, and some Rab proteins that did not physically interact with REP-1 had unaffected localization upon REP-1 disruption, demonstrating tissue-specific and Rab-specific requirements for REP-1. C. elegans genetics: rep-1 mutant analysis, double-mutant epistasis with rab-3 and rab-27 mutants, behavioral assays (synaptic transmission, defecation), co-immunoprecipitation/binding studies Genes to cells : devoted to molecular & cellular mechanisms Medium 19090809
2017 Two independent families with choroideremia carry mutations at position c.-98 (C>A and C>T) in the CHM promoter region. These mutations abolish CHM mRNA and REP-1 protein expression, and abrogated luciferase reporter activity. The CHM promoter was functionally defined as the region encompassing nucleotides c.-119 to c.-76 by luciferase reporter assays. Whole-genome sequencing, RT-PCR and immunoblot for mRNA/protein absence, luciferase reporter assay with promoter deletion constructs Human mutation Medium 28271586
2022 A novel CHM splicing variant causing in-frame skipping of exon 10 produces a shorter REP-1 isoform; molecular modeling of the ternary REP-1/Rab/RGGT complex predicted that this in-frame deletion significantly impairs REP-1/Rab binding without altering REP-1/RGGT interaction, suggesting a potential dominant-negative mechanism by sequestering RGGT away from Rab prenylation. Exome sequencing, mRNA analysis (RT-PCR), molecular modeling of REP1/Rab/RGGT ternary complex Genes Low 35886051
2020 An SVA retrotransposon insertion in exon 2 of CHM (c.97_98insSVA) causes exon 2 skipping in CHM mRNA (r.50_116del) and results in complete absence of REP-1 protein, establishing SVA insertion as a novel class of loss-of-function mutation mechanism for CHM. Patient-derived lymphoblastoid cell line; RT-PCR and sequencing of CHM transcript; immunoblot for REP-1 protein Ophthalmic genetics Medium 32441177
1998 A nucleotide substitution at the +3 position of the IVS13 splice-donor site (IVS13+3 A>C) in CHM results in complete skipping of exon 13 from REP-1 mRNA, with no normal transcript detectable, creating a premature stop codon. SSCP from genomic DNA; RT-PCR amplification of lymphocyte-derived mRNA; direct sequencing of aberrant transcript Current eye research Medium 9678418

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2015 Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial. Lancet (London, England) 376 26670617
2010 Practice standards for transcranial Doppler (TCD) ultrasound. Part II. Clinical indications and expected outcomes. Journal of neuroimaging : official journal of the American Society of Neuroimaging 160 20977531
2006 Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Investigative ophthalmology & visual science 153 16936131
2004 Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 138 15186776
1997 Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Human mutation 125 9067750
1989 Dual bidirectional promoters at the mouse dhfr locus: cloning and characterization of two mRNA classes of the divergently transcribed Rep-1 gene. Molecular and cellular biology 120 2674679
2001 Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease. Traffic (Copenhagen, Denmark) 88 11489211
2003 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human genetics 82 12827496
2005 TCD in sickle cell disease: an important and useful test. Pediatric radiology 80 15703904
1992 Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nature genetics 78 1302003
2009 Oral Chinese herbal medicine (CHM) as an adjuvant treatment during chemotherapy for non-small cell lung cancer: A systematic review. Lung cancer (Amsterdam, Netherlands) 75 20015572
1994 Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Human molecular genetics 70 7981671
2016 The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. Investigative ophthalmology & visual science 67 27820636
2004 Chalcomycin biosynthesis gene cluster from Streptomyces bikiniensis: novel features of an unusual ketolide produced through expression of the chm polyketide synthase in Streptomyces fradiae. Antimicrobial agents and chemotherapy 65 15561847
2000 Transcranial Doppler (TCD) screening for stroke prevention in sickle cell anemia: pitfalls in technique variation. Pediatric radiology 61 11100487
2011 Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). Investigative ophthalmology & visual science 59 22076985
2006 Hydroxyurea therapy lowers TCD velocities in children with sickle cell disease. Pediatric blood & cancer 59 16526051
2009 Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium. Investigative ophthalmology & visual science 58 19741243
2001 Comparison of transcranial color Doppler imaging (TCDI) and transcranial Doppler (TCD) in children with sickle-cell anemia. Pediatric radiology 52 11486797
2008 CHM-1, a novel synthetic quinolone with potent and selective antimitotic antitumor activity against human hepatocellular carcinoma in vitro and in vivo. Molecular cancer therapeutics 51 18281518
1999 Characterization of the ternary complex between Rab7, REP-1 and Rab geranylgeranyl transferase. European journal of biochemistry 50 10491170
2009 Utilization of TCD screening for primary stroke prevention in children with sickle cell disease. Neurology 46 19365052
2009 Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients. PloS one 45 20027300
2007 Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Archives of ophthalmology (Chicago, Ill. : 1960) 42 17698759
2014 Effect of gefitinib plus Chinese herbal medicine (CHM) in patients with advanced non-small-cell lung cancer: a retrospective case-control study. Complementary therapies in medicine 40 25453521
2017 Single-base substitutions in the CHM promoter as a cause of choroideremia. Human mutation 38 28271586
2012 CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice. The journal of gene medicine 38 22228595
2021 Genome and transcriptome of Papaver somniferum Chinese landrace CHM indicates that massive genome expansion contributes to high benzylisoquinoline alkaloid biosynthesis. Horticulture research 37 33384435
2018 Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia. Advances in experimental medicine and biology 37 29721931
2018 Annual stroke incidence in Nigerian children with sickle cell disease and elevated TCD velocities treated with hydroxyurea. Pediatric blood & cancer 36 29797633
2009 Novel quinolone CHM-1 induces apoptosis and inhibits metastasis in a human osterogenic sarcoma cell line. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 36 19557855
2010 Transcranial doppler ultrasonography (TCD) in infants with sickle cell anemia: baseline data from the BABY HUG trial. Pediatric blood & cancer 34 19813252
2009 The synthesized 2-(2-fluorophenyl)-6,7-methylenedioxyquinolin-4-one (CHM-1) promoted G2/M arrest through inhibition of CDK1 and induced apoptosis through the mitochondrial-dependent pathway in CT-26 murine colorectal adenocarcinoma cells. Journal of gastroenterology 31 19688288
2009 CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. American journal of medical genetics. Part A 29 19764077
2009 Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. Archives of ophthalmology (Chicago, Ill. : 1960) 28 19597113
2001 Phosphoisoprenoids modulate association of Rab geranylgeranyltransferase with REP-1. The Journal of biological chemistry 28 11675392
2012 Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation. Archives of ophthalmology (Chicago, Ill. : 1960) 27 22965595
2003 Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalmic genetics 27 14566650
2018 Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. Mutation research. Reviews in mutation research 26 29555028
1999 REP-1 gene mutations in Japanese patients with choroideremia. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 26 10447648
2016 Chm-1 gene-modified bone marrow mesenchymal stem cells maintain the chondrogenic phenotype of tissue-engineered cartilage. Stem cell research & therapy 25 27150539
2012 Plasma BDNF and PDGF-AA levels are associated with high TCD velocity and stroke in children with sickle cell anemia. Cytokine 25 22704695
2002 Cartilage-specific matrix protein, chondromodulin-I (ChM-I), is a strong angio-inhibitor in endochondral ossification of human neonatal vertebral tissues in vivo: relationship with angiogenic factors in the cartilage. Acta histochemica 25 12086337
2014 Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. International journal of molecular medicine 24 24913019
2013 The role of TcdB and TccC subunits in secretion of the Photorhabdus Tcd toxin complex. PLoS pathogens 23 24098116
2009 CHM-1, a new vascular targeting agent, induces apoptosis of human umbilical vein endothelial cells via p53-mediated death receptor 5 up-regulation. The Journal of biological chemistry 23 20007968
2007 CHM-1 inhibits hepatocyte growth factor-induced invasion of SK-Hep-1 human hepatocellular carcinoma cells by suppressing matrix metalloproteinase-9 expression. Cancer letters 23 17689859
1999 Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Ophthalmic genetics 23 10420196
1995 Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic genetics 23 8749050
2000 [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]. Journal francais d'ophtalmologie 22 11139690
1998 Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates. FEBS letters 21 9563513
2001 Cerebral blood flow in relation to contralateral carotid disease, an MRA and TCD study. European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 19 11352680
2019 Investigating the in vitro metabolism of the dental resin monomers BisGMA, BisPMA, TCD-DI-HEA and UDMA using human liver microsomes and quadrupole time of flight mass spectrometry. Toxicology 18 30930120
2009 Submandibular TCD approach detects post-bulb ICA stenosis in children with sickle cell anemia. Neurology 18 19553593
2015 Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. BMC ophthalmology 17 26216097
2001 Purification and characterization of membrane-bound quinoprotein cyclic alcohol dehydrogenase from Gluconobacter frateurii CHM 9. Bioscience, biotechnology, and biochemistry 17 11826975
2021 The molecular structure and role of LECT2 or CHM-II in arthritis, cancer, and other diseases. Journal of cellular physiology 16 34550600
2021 Pseudomonas sp. TCd-1 significantly alters the rhizosphere bacterial community of rice in Cd contaminated paddy field. Chemosphere 16 34906525
2019 CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia. Investigative ophthalmology & visual science 16 30995293
2015 MERTK signaling in the retinal pigment epithelium regulates the tyrosine phosphorylation of GDP dissociation inhibitor alpha from the GDI/CHM family of RAB GTPase effectors. Experimental eye research 16 26283020
2011 CHM-1 induces apoptosis via p38-mediated upregulation of DR5 expression in human ovarian cancer SKOV3 cells. European journal of pharmacology 16 21907193
1994 Construction of a series of congenic mice with recombinant chromosome 1 regions surrounding the genetic loci for resistance to intracellular parasites (Ity, Lsh, and Bcg), DNA repair responses (Rep-1), and the cytoskeletal protein villin (Vil). Infection and immunity 15 8262646
1988 The tritocerebral commissure 'dwarf' (TCD): a major GABA-immunoreactive descending interneuron in the locust. Journal of comparative physiology. A, Sensory, neural, and behavioral physiology 15 3244124
2016 Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene. PloS one 14 27685995
2012 Copy number variant analysis in CHM to detect duplications underlying choroideremia. Ophthalmic genetics 14 23273018
2007 Identification of differentially expressed genes in mandibular condylar and tibial growth cartilages using laser microdissection and fluorescent differential display: chondromodulin-I (ChM-1) and tenomodulin (TeM) are differentially expressed in mandibular condylar and other growth cartilages. Bone 13 18337200
2021 CHM mutation spectrum and disease: An update at the time of human therapeutic trials. Human mutation 12 33538369
2015 The influence of Chm-I knockout on ectopic cartilage regeneration and homeostasis maintenance. Tissue engineering. Part A 12 25251892
2015 Inhibition of the insulin-like growth factor 1 receptor by CHM-1 blocks proliferation of glioblastoma multiforme cells. Chemico-biological interactions 12 25643584
1999 Vasoneuronal coupling in migraineurs after subcutaneous sumatriptan: a TCD study. Journal of the neurological sciences 12 10500262
2020 A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. Ophthalmic genetics 11 32441177
2011 Quantitative analysis of transcript variants of CHM gene containing LTR12C element in humans. Gene 11 21939745
2008 Caenorhabditis elegans Rab escort protein (REP-1) differently regulates each Rab protein function and localization in a tissue-dependent manner. Genes to cells : devoted to molecular & cellular mechanisms 11 19090809
1997 Levels of immunoreactive cysteinyl-leukotrienes in CSF after subarachnoid haemorrhage correlate with blood flow-velocity in TCD. Acta neurochirurgica 11 9309293
2016 Novel CHM mutations identified in Chinese families with Choroideremia. Scientific reports 10 27739455
2015 CHM-1 Suppresses Formation of Cell Surface-associated GRP78-p85α Complexes, Inhibiting PI3K-AKT Signaling and Inducing Apoptosis of Human Nasopharyngeal Carcinoma Cells. Anticancer research 10 26408697
2014 Chondrogenic differentiation of ChM-I gene transfected rat bone marrow-derived mesenchymal stem cells on 3-dimensional poly (L-lactic acid) scaffold for cartilage engineering. Cell biology international 10 25319137
1975 Cycloheximide resistance in Chinese hamster cells. II. Induction of Chm resistance in Chinese hamster cells by N-nitrosomethylurea. Mutation research 10 1177963
2024 Effects of different addition levels of CHM-JM113 on growth performance, antioxidant capacity, organ index, and intestinal health of AA broilers. Frontiers in veterinary science 9 38812557
2024 From complexity to clarity: development of CHM-FIEFP for predicting effective components in Chinese herbal formulas by using big data. Cancer biology & medicine 9 39468922
2007 Novel truncating mutations of the CHM gene in Chinese patients with choroideremia. Molecular vision 9 18087237
2020 αCGRP-Induced Changes in Cerebral and Systemic Circulation; A TCD Study. Frontiers in neurology 8 33240203
2010 The quinolone derivative CHM-1 inhibits murine WEHI-3 leukemia in BALB/c mice in vivo. Leukemia & lymphoma 8 20846096
2001 Increased expression of interleukin-1 beta is associated with persistence of the disease and invasion in complete hydatidiform moles (CHM). European journal of gynaecological oncology 8 11321495
2020 TCD, a triterpenoid isolated from wild bitter gourd, reduces synaptosomal release of glutamate and protects against kainic acid-induced neuronal death. Food & function 7 33089839
2018 CHM-1, a novel microtubule-destabilizing agent exhibits antitumor activity via inducing the expression of SIRT2 in human breast cancer cells. Chemico-biological interactions 7 29679549
2017 Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia. The application of clinical genetics 7 29296092
2005 Co-localization of chondromodulin-I (ChM-I) and bone morphogenetic protein-6 (BMP-6) in myoepithelial cells of canine mammary tumors. The Journal of veterinary medical science 7 16327219
1998 Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene. Current eye research 7 9678418
1997 A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 7 9349950
2019 Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM). Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 6 31654189
2018 CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. Retinal cases & brief reports 6 29045269
1993 The mouse t complex distorter-3 (Tcd-3) locus and transmission ratio distortion. Genetical research 6 8276231
2022 A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 5 35886051
2021 Enhanced Hemodynamic and Clinical Response to αCGRP in Migraine Patients-A TCD Study. Frontiers in neurology 5 33584532
2020 Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. Scientific reports 5 32985515
2020 Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. Human genome variation 5 33110609
2003 Noradrenergic constriction of cerebral arteries as detected by transcranial Doppler (TCD) in the rabbit. Ultrasound in medicine & biology 5 14597336
2001 Demonstration of TGF-alpha-EGFR and EGF-EGFR autocrine loops and their relation to proliferation in complete hydatidiform moles (CHM). International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 5 11737472
2023 TCD screening and spending among children with sickle cell anemia. The American journal of managed care 4 36947020

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