Affinage

ERCC2

General transcription and DNA repair factor IIH helicase subunit XPD · UniProt P18074

Round 2 corrected
Length
760 aa
Mass
86.9 kDa
Annotated
2026-04-28
130 papers in source corpus 18 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ERCC2 (XPD) is a 5′→3′ ATP-dependent DNA helicase that functions as an integral subunit of the TFIIH complex, coupling nucleotide excision repair (NER) with RNA polymerase II basal transcription. Its helicase activity, directly demonstrated with purified protein, is stimulated by the TFIIH subunit p44 through a C-terminal domain interaction, and disease-causing mutations that disrupt this interaction abolish NER (PMID:8413672, PMID:9771713). ERCC2 bridges the CAK (Cdk7–cyclin H–MAT1) subcomplex to core TFIIH, thereby regulating both transcription and cell-cycle progression through titration of CAK activity, and its loss impairs p53-mediated apoptosis (PMID:8692841, PMID:12853965, PMID:8675009). Germline ERCC2 mutations cause xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD), where the position of the mutation—rather than simple loss of function—determines the clinical phenotype, while somatic helicase-domain mutations in urothelial carcinoma abrogate NER, generate a characteristic mutational signature, and confer cisplatin sensitivity (PMID:9238033, PMID:25096233, PMID:27111033).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1988 High

    Cloning of ERCC2 established the first direct link between a defined human gene and the incision step of NER, answering which gene corrects the UV-sensitive CHO UV5 complementation group.

    Evidence Genomic DNA transfection into UV5 CHO cells with UV survival and strand incision assays

    PMID:2835663

    Open questions at the time
    • Biochemical activity of the encoded protein unknown
    • No connection to transcription machinery yet established
  2. 1990 High

    Sequence homology to the yeast RAD3 helicase/ATPase predicted that ERCC2 encodes a DNA helicase, providing the first mechanistic hypothesis for how the gene product functions in NER.

    Evidence cDNA cloning and amino acid sequence alignment with S. cerevisiae RAD3

    PMID:2184031

    Open questions at the time
    • Direct enzymatic activity of human ERCC2 protein not yet demonstrated
  3. 1993 High

    Purification of XPD/ERCC2 and demonstration of intrinsic ssDNA-dependent ATPase and 5′→3′ helicase activities confirmed ERCC2 as a bona fide helicase, and cross-species complementation of yeast rad3 lethality proved functional conservation.

    Evidence Protein purification with in vitro ATPase and helicase assays; yeast rad3 complementation

    PMID:8413672

    Open questions at the time
    • How ERCC2 helicase activity is regulated in the context of the NER machinery unknown
    • Relationship to transcription factors not yet defined
  4. 1994 High

    Identification of ERCC2 as a subunit of TFIIH unified DNA repair and RNA polymerase II transcription into a single mechanistic framework, answering how one protein could serve dual roles.

    Evidence Reciprocal co-immunoprecipitation with TFIIH subunits and reconstitution of transcription activity upon ERCC2 re-addition; in vitro NER complementation with purified TFIIH; cDNA rescue of XP-D and TTD cells

    PMID:8055625 PMID:8152490 PMID:8194528

    Open questions at the time
    • Which TFIIH subunit directly contacts ERCC2 and regulates its helicase activity unknown
    • Structural basis of ERCC2 integration into TFIIH undefined
  5. 1995 High

    Discovery that p53 binds XPD and directly inhibits its helicase activity revealed a regulatory axis connecting the tumor suppressor to NER/transcription through TFIIH.

    Evidence Co-immunoprecipitation of p53 with XPD; helicase inhibition assays comparing wild-type vs. Arg273His p53

    PMID:7663514

    Open questions at the time
    • Physiological contexts in which p53 regulates ERCC2 helicase not defined
    • Structural basis of inhibition unknown
  6. 1996 High

    Isolation of a distinct ERCC2/CAK subcomplex and demonstration that ERCC2 bridges CAK to core TFIIH established ERCC2 as an architectural organizer of TFIIH with roles in both transcription and repair; separately, ERCC2 was shown to be required for p53-mediated apoptosis.

    Evidence Biochemical fractionation with in vitro NER and transcription reconstitution; microinjection of p53 into XP-D fibroblasts with apoptosis rescue by wild-type XPD

    PMID:8675009 PMID:8692841

    Open questions at the time
    • Mechanism by which ERCC2 enables p53-dependent apoptosis unclear
    • Whether ERCC2/CAK subcomplex has functions independent of holo-TFIIH not resolved
  7. 1997 High

    Genotype–phenotype analysis using yeast complementation showed that the position of the non-null allele—not simply loss of function—determines whether patients develop XP or TTD, resolving the long-standing puzzle of how mutations in one gene produce distinct diseases.

    Evidence Mutation identification in XP and TTD patients followed by yeast rad3 complementation of individual alleles

    PMID:9238033

    Open questions at the time
    • Molecular mechanism by which specific mutations cause transcription vs. repair defects not dissected
  8. 1998 High

    Identification of p44 as the direct TFIIH partner that stimulates XPD helicase activity through a C-terminal interaction answered how ERCC2 helicase is activated within TFIIH and explained how disease mutations at this interface cause NER deficiency.

    Evidence Co-immunoprecipitation of XPD with p44; helicase stimulation assay; mapping of XP-D and TTD mutations to the C-terminal interaction domain

    PMID:9771713

    Open questions at the time
    • Structural details of p44–XPD interface unknown at this time
    • Whether other TFIIH subunits modulate this stimulation not addressed
  9. 2003 High

    Drosophila genetic studies revealed a cell-cycle regulatory function for XPD: it titrates CAK/Cdk7 activity to control mitotic progression, extending ERCC2 function beyond DNA repair and transcription.

    Evidence Drosophila overexpression and knockdown of Xpd with Cdk T-loop phosphorylation assays and mitotic phenotype analysis

    PMID:12853965

    Open questions at the time
    • Whether mammalian ERCC2 similarly controls mitotic CAK activity not directly demonstrated
    • Mechanism of ERCC2 downregulation at mitotic entry not defined
  10. 2014 High

    Functional validation that somatic ERCC2 mutations found in cisplatin-responsive urothelial carcinomas abrogate NER established ERCC2 as a clinically actionable biomarker for platinum sensitivity.

    Evidence Whole-exome sequencing of bladder tumors; complementation of ERCC2-deficient cells with patient-derived mutants; cisplatin and UV sensitivity assays

    PMID:25096233

    Open questions at the time
    • Whether all ERCC2 mutations predict cisplatin response equally not determined
    • In vivo preclinical model not yet established
  11. 2016 High

    Multi-cohort genomic analyses defined an NER-deficiency mutational signature associated with ERCC2 loss-of-function, providing an orthogonal biomarker for ERCC2 status; functional testing of germline variants confirmed dual impairment of repair and transcription.

    Evidence Mutational signature analysis across three urothelial cancer cohorts; cell-based NER and transcriptional activation assays with familial cancer variants

    PMID:27111033 PMID:27504877

    Open questions at the time
    • Whether the mutational signature is specific to ERCC2 or shared with other NER gene defects not fully resolved
  12. 2018 High

    CRISPR knock-in of an ERCC2 helicase-domain mutation into bladder cancer cells directly demonstrated that a single helicase mutation is sufficient to abolish NER and confer cisplatin sensitivity in vivo, closing the causality gap from correlative clinical data.

    Evidence CRISPR knock-in in bladder cancer cells; microscopy-based NER assay; orthotopic xenograft cisplatin sensitivity model

    PMID:29980530

    Open questions at the time
    • Resistance mechanisms to cisplatin in ERCC2-mutant tumors not characterized
    • Whether ERCC2 helicase-dead tumors retain transcription defects in vivo unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ERCC2 coordinates its repair, transcription, and cell-cycle functions in mammalian cells—and whether therapeutic strategies can exploit the transcription defect in ERCC2-mutant cancers independently of cisplatin—remains unresolved.
  • Structural basis for allele-specific XP vs. TTD phenotypes at atomic resolution not fully resolved in the timeline
  • Mammalian validation of the CAK-titration/cell-cycle role is lacking
  • Mechanisms of acquired resistance in ERCC2-mutant tumors not defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140097 catalytic activity, acting on DNA 4 GO:0140223 general transcription initiation factor activity 3 GO:0140657 ATP-dependent activity 2 GO:0003677 DNA binding 1
Localization
GO:0005634 nucleus 3
Pathway
R-HSA-73894 DNA Repair 8 R-HSA-74160 Gene expression (Transcription) 4 R-HSA-1643685 Disease 3 R-HSA-1640170 Cell Cycle 1 R-HSA-5357801 Programmed Cell Death 1
Partners
CCNHCDK7ERCC3GTF2H3MNAT1TP53
Complex memberships
ERCC2/CAK subcomplexTFIIH

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1988 ERCC2 was cloned as a human gene that corrects the nucleotide excision repair defect (incision step) in UV-sensitive CHO UV5 cells, establishing its role in NER. Cosmid transformants showed near wild-type UV survival and restored strand incision rates. Genomic DNA transfection, UV survival assays, alkaline elution strand incision assays Molecular and cellular biology High 2835663
1990 The ERCC2 protein shares 52% amino acid identity (73% homology) with the yeast nucleotide excision repair protein RAD3, which is a single-stranded DNA-dependent ATPase and ATP-dependent helicase, providing the first insight into the biochemical function of ERCC2. cDNA cloning and amino acid sequence comparison The EMBO journal High 2184031
1993 The XPD/ERCC2 protein was purified to near homogeneity and shown to possess single-stranded DNA-dependent ATPase and ATP-dependent DNA helicase activities. Expression of XPD in S. cerevisiae complements the lethality of a rad3 mutation, demonstrating functional conservation. Protein purification, ATPase assay, helicase assay, yeast complementation of rad3 lethality Nature High 8413672
1994 ERCC2 co-purifies with the RNA polymerase II transcription factor BTF2/TFIIH (which has bidirectional helicase activity). Antibodies to the 89 kDa ERCC3 or p62 subunit of BTF2 immunoprecipitate ERCC2, and anti-ERCC2 antibody retains/shifts BTF2. ERCC2 can be resolved from other BTF2 components by salt treatment, and its re-addition enhances BTF2 transcription activity, establishing ERCC2 as a subunit of TFIIH linking DNA repair to transcription. Co-immunoprecipitation, glycerol gradient sedimentation, transcription activity reconstitution assay The EMBO journal High 8194528
1994 ERCC2 cDNA introduced into TTD (trichothiodystrophy) and XP-D fibroblasts via transfection or microinjection corrects UV sensitivity, unscheduled DNA synthesis deficiency, and reduced reactivation of a UV-irradiated reporter plasmid, demonstrating that a functional ERCC2 gene is sufficient to restore wild-type NER in both XP-D and TTD cells. cDNA transfection, microinjection, UV survival assay, unscheduled DNA synthesis, host-cell reactivation assay Carcinogenesis High 8055625
1994 TFIIH was shown to have a dual role in basal RNA polymerase II transcription and nucleotide excision repair. TFIIH complements XPD/ERCC2-deficient cell extracts in a repair assay, confirming ERCC2 is an integral subunit of TFIIH required for NER. In vitro NER complementation assay with cell extracts, transcription assay Nature High 8152490
1995 p53 binds to TFIIH-associated factors including XPD/ERCC2 and XPB via its C-terminal domain. Wild-type p53 (but not Arg273His mutant p53) inhibits XPD and XPB DNA helicase activities, indicating p53 modulates ERCC2 helicase activity through direct physical interaction. Co-immunoprecipitation of p53 with TFIIH subunits, helicase inhibition assay with wild-type and mutant p53 Nature genetics High 7663514
1996 ERCC2 was isolated as part of a distinct ERCC2/CAK sub-complex containing ERCC2 (XPD), cdk7, cyclin H, and p36/MAT1 (CAK components). This ERCC2/CAK complex exhibits CAK (cdk-activating kinase) activity and can complement ERCC2-deficient cell extracts in a cholesterol-lesion excision repair assay. A separate TFIIH* complex (lacking ERCC2 and CAK) supported transcription, which was stimulated by addition of ERCC2/CAK, establishing that ERCC2 bridges the CAK and core TFIIH subcomplexes. Biochemical fractionation, glycerol gradient sedimentation, in vitro NER complementation assay, in vitro transcription assay Proceedings of the National Academy of Sciences of the United States of America High 8692841
1996 XPB and XPD/ERCC2 are components of the p53-mediated apoptosis pathway. Primary fibroblasts from XP-D patients (mutant ERCC2) have a deficiency in p53-induced apoptosis that can be rescued by transferring wild-type XPD gene into XP-D cells. XP-D lymphocytes also show decreased apoptotic response to adriamycin-induced DNA damage. Microinjection of p53 expression vector, apoptosis assay, wild-type XPD gene rescue experiment in XP-D fibroblasts Genes & development High 8675009
1997 The XPD protein has a dual function in both NER and basal transcription. Mutations causing XP and TTD cluster to different sites in the XPD gene. Using a yeast complementation assay, mutations found in both XP and TTD patients behave as null alleles; the non-null allele determines the clinical phenotype, establishing that mutation position—not just loss of function—determines whether the phenotype is XP versus TTD. Mutation identification by sequencing, yeast complementation assay to test individual alleles Proceedings of the National Academy of Sciences of the United States of America High 9238033
1998 XPD/ERCC2 interacts specifically with p44, another TFIIH subunit, through its C-terminal domain. This interaction stimulates XPD's 5'→3' helicase activity. XP-D and TTD patient mutations in the XPD C-terminal domain prevent p44 interaction, thereby reducing helicase activity and causing the NER defect. Co-immunoprecipitation of XPD with p44, helicase stimulation assay, patient mutation mapping Nature genetics High 9771713
2003 Drosophila Xpd/Ercc2 negatively regulates the cell cycle function of Cdk7 (CAK activity). Excess Xpd titrates CAK activity, reducing Cdk T-loop phosphorylation, causing mitotic defects and lethality; decreased Xpd increases CAK activity and cell proliferation. Xpd is downregulated at the start of mitosis, when Cdk1 activity is maximal, suggesting Xpd downregulation contributes to upregulation of mitotic CAK activity and controls mitotic progression. Drosophila genetics (overexpression and knockdown of Xpd), Cdk phosphorylation assays, cell proliferation and mitosis phenotype analysis Nature High 12853965
2014 Somatic ERCC2 mutations are enriched in cisplatin-sensitive muscle-invasive urothelial carcinoma patients. Expression of representative ERCC2 mutants in an ERCC2-deficient cell line fails to rescue cisplatin and UV sensitivity compared with wild-type ERCC2, demonstrating that clinically identified ERCC2 mutations result in loss of NER function and drive cisplatin sensitivity. Whole-exome sequencing, ERCC2 mutant complementation assay in ERCC2-deficient cells, UV and cisplatin sensitivity assays Cancer discovery High 25096233
2015 A mouse Xpd/Ercc2 missense mutation (Ser737Pro) causes recessive cataracts and lens fiber cell differentiation defects. Heterozygous mice show increased γH2AX foci after ionizing radiation compared to wild-type, demonstrating that even heterozygous ERCC2 deficiency impairs DNA damage repair in vivo. ENU mutagenesis screen, exome sequencing, histological analysis, γH2AX foci quantification after irradiation PloS one Medium 25951169
2016 Somatic ERCC2 mutations in urothelial cancer are associated with a specific mutational signature characterized by a broad spectrum of base changes, defining an NER-related mutational signature. The activity of this signature correlates with ERCC2 mutation status, linking ERCC2 NER deficiency to characteristic patterns of somatic mutagenesis. Mutational signature analysis across three independent urothelial tumor cohorts with somatic ERCC2 mutation data Nature genetics High 27111033
2016 Functional testing of ERCC2 mutations from familial breast/ovarian cancer patients showed that 10 of 11 tested mutations exert diminished excision repair efficiency and/or decreased transcriptional activation capability, confirming the dual DNA repair and transcription functions of ERCC2 and establishing cell-based assays for classifying ERCC2 variants. Cell-based NER functional assay, transcriptional activation assay in ERCC2-deficient cells with patient-derived mutations PLoS genetics Medium 27504877
2018 Most ERCC2 helicase domain mutations observed in bladder cancer patients cannot support NER in a microscopy-based NER assay. Introducing an ERCC2 helicase domain mutation into a bladder cancer cell line abrogates NER activity and drives cisplatin sensitivity in an orthotopic xenograft model, establishing a direct causal relationship between ERCC2 helicase domain mutation, NER deficiency, and cisplatin response. Microscopy-based NER functional assay, CRISPR-mediated knock-in of ERCC2 mutation in bladder cancer cells, orthotopic xenograft cisplatin sensitivity model Clinical cancer research High 29980530
2018 miR-145 targets the 3'-UTR of ERCC2 (validated by luciferase reporter assay) and suppresses ERCC2 expression. Arsenite induces miR-145 upregulation in L-02 hepatic cells, reducing ERCC2 levels and impairing DNA repair; transfection with an miR-145 inhibitor prevents arsenite-induced ERCC2 downregulation and DNA damage. Luciferase reporter assay (3'-UTR targeting), miR-145 inhibitor transfection, comet assay for DNA damage Toxicology letters Medium 29705342

Source papers

Stage 0 corpus · 130 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
1999 Quality control by DNA repair. Science (New York, N.Y.) 1187 10583946
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2014 A proteome-scale map of the human interactome network. Cell 977 25416956
2005 Nucleolar proteome dynamics. Nature 934 15635413
1996 The general transcription factors of RNA polymerase II. Genes & development 849 8946909
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2001 Structural basis of transcription: an RNA polymerase II elongation complex at 3.3 A resolution. Science (New York, N.Y.) 740 11313499
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
1995 p53 modulation of TFIIH-associated nucleotide excision repair activity. Nature genetics 520 7663514
2014 Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma. Cancer discovery 508 25096233
2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome research 438 15489334
1994 Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II. Nature 436 8152490
2022 OpenCell: Endogenous tagging for the cartography of human cellular organization. Science (New York, N.Y.) 432 35271311
2001 Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer research 426 11245433
2005 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome research 409 16344560
2015 Panorama of ancient metazoan macromolecular complexes. Nature 407 26344197
2001 XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis 404 11532866
1994 The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. The EMBO journal 342 8194528
2005 Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis 333 16195237
2016 Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nature genetics 318 27111033
1998 Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nature genetics 306 9771713
1996 The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes & development 303 8675009
2015 Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis. Chinese journal of cancer 302 25962431
2001 The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes & development 298 11156600
2004 A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer. British journal of cancer 293 15213713
1993 Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature 291 8413672
1992 ERCC1 and ERCC2 expression in malignant tissues from ovarian cancer patients. Journal of the National Cancer Institute 289 1433335
1990 ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. The EMBO journal 283 2184031
2007 Myelin-associated glycoprotein (MAG): past, present and beyond. Journal of neurochemistry 244 17241126
1997 Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proceedings of the National Academy of Sciences of the United States of America 233 9238033
1988 Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Molecular and cellular biology 206 2835663
2010 MAG and OMgp synergize with Nogo-A to restrict axonal growth and neurological recovery after spinal cord trauma. The Journal of neuroscience : the official journal of the Society for Neuroscience 205 20484625
2002 ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 189 12435843
2000 XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. Carcinogenesis 174 11133811
2006 XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. American journal of epidemiology 166 16707649
1988 Peripheral neuropathy and anti-MAG antibodies. Critical reviews in neurobiology 164 2458847
2005 ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review. American journal of epidemiology 147 15615908
2018 ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 132 29980530
2002 Gene-environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking exposure in lung cancer. Cancer research 130 11888908
2003 Xpd/Ercc2 regulates CAK activity and mitotic progression. Nature 106 12853965
1996 Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. Proceedings of the National Academy of Sciences of the United States of America 102 8692841
1996 Anti-MAG and anti-SGPG antibodies in neuropathy. Muscle & nerve 93 8618562
1997 Soluble myelin-associated glycoprotein (MAG) found in vivo inhibits axonal regeneration. Molecular and cellular neurosciences 91 9361272
2020 Targeting Endocannabinoid Signaling: FAAH and MAG Lipase Inhibitors. Annual review of pharmacology and toxicology 89 32867595
2003 Lipid rafts mediate the interaction between myelin-associated glycoprotein (MAG) on myelin and MAG-receptors on neurons. Molecular and cellular neurosciences 75 12691736
2018 Advances in the diagnosis, immunopathogenesis and therapies of IgM-anti-MAG antibody-mediated neuropathies. Therapeutic advances in neurological disorders 74 29403542
2005 Uranyl acetate induces hprt mutations and uranium-DNA adducts in Chinese hamster ovary EM9 cells. Mutagenesis 65 16195314
2005 ERCC1 and ERCC2 polymorphisms and adult glioma. Neuro-oncology 63 16212814
2000 Early onset of axonal degeneration in double (plp-/-mag-/-) and hypomyelinosis in triple (plp-/-mbp-/-mag-/-) mutant mice. The Journal of neuroscience : the official journal of the Society for Neuroscience 62 10884306
2007 Exercise normalizes levels of MAG and Nogo-A growth inhibitors after brain trauma. The European journal of neuroscience 61 18093178
1991 Differential expression of MAG isoforms during development. Journal of neuroscience research 57 1716323
2005 Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas. Cancer 56 15834925
1993 A common element involved in transcriptional regulation of two DNA alkylation repair genes (MAG and MGT1) of Saccharomyces cerevisiae. Molecular and cellular biology 53 8246943
1984 Neuropathy and anti-MAG antibodies without detectable serum M-protein. Neurology 53 6198602
1984 Conversion of myelin-associated glycoprotein (MAG) to a smaller derivative by calcium activated neutral protease (CANP)-like enzyme in myelin and inhibition by E-64 analogue. Neurochemical research 52 6206410
1994 Altered DNA ligase III activity in the CHO EM9 mutant. Mutation research 51 7510367
1984 DNA-ligase activities appear normal in the CHO mutant EM9. Mutation research 51 6738565
2020 The Bruton tyrosine kinase inhibitor ibrutinib improves anti-MAG antibody polyneuropathy. Neurology(R) neuroimmunology & neuroinflammation 50 32284437
2005 Expression of MBP, PLP, MAG, CNP, and GFAP in the Human Alcoholic Brain. Alcoholism, clinical and experimental research 50 16205370
2020 Reliable measurement of free Ca2+ concentrations in the ER lumen using Mag-Fluo-4. Cell calcium 49 32179239
2006 Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis 49 17050553
1996 Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes. Genomics 48 8786141
2007 Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome. Pharmacogenomics 47 18085999
1998 The CHO XRCC1 mutant, EM9, deficient in DNA ligase III activity, exhibits hypersensitivity to camptothecin independent of DNA replication. Mutation research 47 9739812
2008 PirB, a second receptor for the myelin inhibitors of axonal regeneration Nogo66, MAG, and OMgp: implications for regeneration in vivo. Neuron 46 19081369
1991 Induction of S.cerevisiae MAG 3-methyladenine DNA glycosylase transcript levels in response to DNA damage. Nucleic acids research 45 1754379
1992 Construction of human XRCC1 minigenes that fully correct the CHO DNA repair mutant EM9. Nucleic acids research 41 1408759
2010 Meta-analysis of two ERCC2 (XPD) polymorphisms, Asp312Asn and Lys751Gln, in breast cancer. Breast cancer research and treatment 40 20379847
1987 Recombination and ligation of transfected DNA in CHO mutant EM9, which has high levels of sister chromatid exchange. Molecular and cellular biology 40 3600655
2024 Mag-Net: Rapid enrichment of membrane-bound particles enables high coverage quantitative analysis of the plasma proteome. bioRxiv : the preprint server for biology 39 38617345
2005 Micronuclei in EM9 cells expressing polymorphic forms of human XRCC1. Cancer letters 39 15797631
1987 Induction and repair of DNA single-strand breaks in EM9 mutant CHO cells treated with hydrogen peroxide. Chemico-biological interactions 38 3115605
2010 Recent advances toward the inhibition of mAG and LAM synthesis in Mycobacterium tuberculosis. Medicinal research reviews 36 20099253
2013 ERCC1 and ERCC2 variants predict survival in gastric cancer patients. PloS one 35 24023723
2009 ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females. Journal of experimental & clinical cancer research : CR 34 20003391
2008 ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population. Reproductive biomedicine online 33 18616887
1998 Differential expression of the L- and S-isoforms of myelin associated glycoprotein (MAG) in oligodendrocyte unit phenotypes in the adult rat anterior medullary velum. Journal of neurocytology 33 10640185
1998 A high yield of translocations parallels the high yield of sister chromatid exchanges in the CHO mutant EM9. Mutation research 33 9626966
1999 Encephalitogenic and neuritogenic T cell responses to the myelin-associated glycoprotein (MAG) in the Lewis rat. Journal of neuroimmunology 32 10229126
2017 Mice lacking Gpr37 exhibit decreased expression of the myelin-associated glycoprotein MAG and increased susceptibility to demyelination. Neuroscience 31 28642167
1999 Myelin-associated glycoprotein, MAG, selectively binds several neuronal proteins. Journal of neuroscience research 31 10494110
1995 Endocytic depletion of L-MAG from CNS myelin in quaking mice. The Journal of cell biology 31 8557747
1982 Immunocytochemical study of myelin-associated glycoprotein (MAG) and basic protein (BP) in acute experimental allergic encephalomyelitis (EAE). Journal of neuroimmunology 31 6184382
2008 Polymorphisms in XPC and ERCC2 genes, smoking and breast cancer risk. International journal of cancer 30 18196582
1996 Cloning and characterization of a new allergen, Mag 3, from the house dust mite, Dermatophagoides farinae: cross-reactivity with high-molecular-weight allergen. Molecular immunology 30 8649452
1984 Poly(ADP-ribose) metabolism appears normal in EM9, a mutagen-sensitive mutant of CHO cells. Mutation research 29 6472314
2007 Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. Acta neuropathologica 28 17828604
2002 Multiple MAG peptides are recognized by circulating T and B lymphocytes in polyneuropathy and multiple sclerosis. European journal of neurology 28 11985632
1994 MAG, a novel plasma protein receptor from Streptococcus dysgalactiae. Gene 28 7515368
2012 GSTP1, ERCC1 and ERCC2 polymorphisms, expression and clinical outcome of oxaliplatin-based adjuvant chemotherapy in colorectal cancer in Chinese population. Asian Pacific journal of cancer prevention : APJCP 27 22994779
1993 Cytogenetic effects of inhibition of topoisomerase I or II activities in the CHO mutant EM9 and its parental line AA8. Mutation research 27 7688089
1985 Anti-MAG antibody and antibody complexes: detection by radioimmunoassay. Neurology 26 2409476
2016 The fully synthetic MAG-Tn3 therapeutic vaccine containing the tetanus toxoid-derived TT830-844 universal epitope provides anti-tumor immunity. Cancer immunology, immunotherapy : CII 25 26847142
2016 Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. PLoS genetics 25 27504877
2016 Selection and Identification of Chloramphenicol-Specific DNA Aptamers by Mag-SELEX. Applied biochemistry and biotechnology 25 27613616
2015 New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PloS one 25 25951169
2011 Association of ERCC2/XPD polymorphisms and interaction with tobacco smoking in lung cancer susceptibility: a systemic review and meta-analysis. Molecular biology reports 25 21614524
2017 Association between the ERCC2 Asp312Asn polymorphism and risk of cancer. Oncotarget 24 28489582
2006 Molecular analysis of hprt mutations generated in Chinese hamster ovary EM9 cells by uranyl acetate, by hydrogen peroxide, and spontaneously. Molecular carcinogenesis 23 16299811
1995 Genomic copy number changes of DNA repair genes ERCC1 and ERCC2 in human gliomas. Journal of neuro-oncology 23 8583241
1984 Apurinic/apyrimidinic endonuclease activities appear normal in the CHO-cell ethyl methanesulfonate-sensitive mutant, EM9. Mutation research 22 6482894
2009 Polymorphisms in the nucleotide excision repair gene ERCC2/XPD and risk of non-Hodgkin lymphoma. Cancer epidemiology 21 19736055
1994 Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells. Carcinogenesis 21 8055625
1991 Induction of chromosomal aberrations in the CHO mutant EM9 and its parental line AA8 by EcoRI restriction endonuclease: electroporation experiments. Mutation research 21 1986265
1981 Immunocytochemical study of P0 glycoprotein, P1 and P2 basic proteins, and myelin-associated glycoprotein (MAG) in lesions of idiopathic polyneuritis. Neuropathology and applied neurobiology 21 6173794
2013 Expression pattern of Nogo-A, MAG, and NgR in regenerating urodele spinal cord. Developmental dynamics : an official publication of the American Association of Anatomists 20 23592243
1989 Mutagen-induced recombination between stably integrated neo gene fragments in CHO and EM9 cells. Mutation research 20 2716763
2018 miR-145 via targeting ERCC2 is involved in arsenite-induced DNA damage in human hepatic cells. Toxicology letters 17 29705342
2013 ERCC1 and ERCC2 haplotype modulates induced BPDE-DNA adducts in primary cultured lymphocytes. PloS one 17 23593158
1991 Characterization of revertants of the CHO EM9 mutant arising during DNA transfection. Carcinogenesis 17 2029744
2020 Selective inhibition of anti-MAG IgM autoantibody binding to myelin by an antigen-specific glycopolymer. Journal of neurochemistry 16 32270492
2017 ERCC1 and ERCC2 as predictive biomarkers to oxaliplatin-based chemotherapy in colorectal cancer patients from Egypt. Experimental and molecular pathology 16 28088319
2015 Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer. Cancer research and treatment 16 26130668
2005 Interethnic variability of ERCC2 polymorphisms. The pharmacogenomics journal 16 15534626
1998 Correlation between cytomegalovirus infection and IgM anti-MAG/SGPG antibody-associated neuropathy. Annals of neurology 16 9749612
2018 Anti-MAG neuropathy: Role of IgM antibodies, the paranodal junction and juxtaparanodal potassium channels. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 15 30144659
2016 Therapeutic options and management of polyneuropathy associated with anti-MAG antibodies. Expert review of neurotherapeutics 15 27267749
2013 hnRNP A1 and secondary structure coordinate alternative splicing of Mag. RNA (New York, N.Y.) 15 23704325
2021 Deacetylase Plus Bromodomain Inhibition Downregulates ERCC2 and Suppresses the Growth of Metastatic Colon Cancer Cells. Cancers 14 33809839
2016 Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site. Annals of clinical and translational neurology 14 27606346
1994 Cloning and molecular characterization of the Chinese hamster ERCC2 nucleotide excision repair gene. Genomics 14 7851887
2018 The Efficacy of MAG-DHA for Correcting AA/DHA Imbalance of Cystic Fibrosis Patients. Marine drugs 13 29861448
2015 An Association between Single Nucleotide Polymorphisms of Lys751Gln ERCC2 Gene and Ovarian Cancer in Polish Women. Advances in medicine 13 26526682
1995 Streptococcal protein MAG--a protein with broad albumin binding specificity. Biochimica et biophysica acta 13 7766685
1987 Different mutations are responsible for the elevated sister-chromatid exchange frequencies characteristic of Bloom's syndrome and hamster EM9 cells. Proceedings of the National Academy of Sciences of the United States of America 13 3470802