Affinage

COLQ

Acetylcholinesterase collagenic tail peptide · UniProt Q9Y215

Length
455 aa
Mass
47.8 kDa
Annotated
2026-06-09
87 papers in source corpus 19 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COLQ encodes the non-fibrillar collagen-like tail subunit (ColQ) that organizes asymmetric acetylcholinesterase (AChE) and contributes to postsynaptic organization at the vertebrate neuromuscular junction (PMID:9689136, PMID:20053883). Its N-terminal proline-rich attachment domain (PRAD) assembles with the WAT domains of AChE(T) tetramers, with two cysteines upstream of the PRAD imposing a characteristic 'heavy/light' disulfide-linked dimer architecture that distinguishes ColQ-anchored AChE from PRiMA-anchored AChE (PMID:18511416); truncations proximal to this attachment domain abolish AChE association, while distal mutations prevent the C-terminal triple-helix formation needed for basal lamina insertion (PMID:9689136). The triple-helical collagen domain carries two distinct heparin-binding sites for anchoring to heparan sulfate proteoglycans in the synaptic basal lamina (PMID:12684510), and the C-terminal domain binds directly to LRP4 (not MuSK directly), competing with agrin and thereby exerting opposing effects on agrin-induced signaling—reducing MuSK phosphorylation while increasing MuSK surface accumulation (PMID:37356721). Through this LRP4-MuSK axis ColQ controls postsynaptic differentiation independent of its AChE-anchoring role, including AChR clustering, AChR subunit maturation, and synaptic gene expression (PMID:20053883, PMID:26993635). COLQ is transcribed from two synapse-specific promoters that drive fiber-type-restricted ColQ-1 and ColQ-1a expression under control of NFAT, MEF2, and cAMP-CREB signaling (PMID:15102835, PMID:17488278, PMID:18718538). Loss-of-function and splicing mutations in COLQ cause congenital myasthenic syndrome with endplate AChE deficiency (PMID:9758617, PMID:26282582).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1998 High

    Established that COLQ encodes the collagen tail subunit of asymmetric AChE and defined which protein domains mediate AChE catalytic-subunit association versus basal lamina insertion, explaining how patient mutations cause endplate AChE deficiency.

    Evidence COS cell coexpression of COLQ mutants with ACHET, sedimentation analysis, and patient mutation analysis; linkage and sequencing in a consanguineous family

    PMID:9689136 PMID:9758617

    Open questions at the time
    • The structural basis of the PRAD-AChE and C-terminal interactions was not resolved
    • The specific basal lamina partner bound by the C-terminus was not identified
  2. 1999 High

    Resolved a splicing mechanism by which a COLQ splice-donor mutation causes exon skipping, showing dependence on U1 snRNA complementarity.

    Evidence Minigene splicing assay in COS cells with mutagenesis rescue at +4/+6 positions

    PMID:10441569

    Open questions at the time
    • Did not address trans-acting splicing factors at this site
    • Limited to one mutation
  3. 2003 High

    Defined the heparin-binding architecture of the ColQ collagen domain, showing two functionally distinct heparin-binding sites whose affinity depends on triple-helix conformation, explaining anchoring to synaptic proteoglycans.

    Evidence Heparin affinity chromatography of defined ColQ mutants

    PMID:12684510

    Open questions at the time
    • The in vivo proteoglycan partner specificity was not directly established here
    • Did not quantify relative contributions of each site at the NMJ
  4. 2004 High

    Showed that COLQ is regulated by two distinct synapse-specific promoters driving fiber-type-specific transcripts via NFAT, SURE, FIRE, and N-box elements, explaining differential ColQ expression in slow versus fast muscle.

    Evidence In vivo muscle DNA transfection, promoter-reporter assays, regulatory element mutagenesis, calcineurin inhibition

    PMID:15102835

    Open questions at the time
    • Upstream signals coupling nerve activity to each promoter were not fully defined
    • Did not establish functional consequences of fiber-type-specific isoforms
  5. 2005 Medium

    Provided a structural model of the AChE(T) tetramer-ColQ PRAD complex and the disulfide arrangement defining heavy/light dimers, distinguishing it from PRiMA-anchored AChE.

    Evidence Crystal-structure-based atomic model building and block normal mode analysis

    PMID:16299589

    Open questions at the time
    • Computational model not experimentally validated in this study
    • Dynamics of the full collagen-tailed complex not addressed
  6. 2007 High

    Identified CGRP/cAMP-CREB signaling through two CRE sites as the selective inducer of the fast-fiber ColQ-1a transcript, linking neuropeptide signaling to fiber-type-specific COLQ expression.

    Evidence CGRP/Bt2-cAMP treatment of myotubes, CRE mutagenesis, adenylyl cyclase inhibition, dominant-negative CREB

    PMID:17488278

    Open questions at the time
    • In vivo relevance of CGRP regulation at the NMJ not directly tested
    • Interaction with other activity-dependent pathways not resolved
  7. 2008 Medium

    Connected synaptic activity to COLQ expression by showing acetylcholine/nicotine induces both ColQ transcripts via CaMKII and MEF2, and refined the disulfide-architecture distinction between ColQ- and PRiMA-anchored AChE.

    Evidence Acetylcholine/nicotine treatment of C2C12 myotubes with active CaMKII/MEF2 overexpression; chimeric ColQ/PRiMA constructs with non-reducing SDS-PAGE

    PMID:18511416 PMID:18718538

    Open questions at the time
    • Overexpression-based pathway evidence not validated by endogenous loss-of-function
    • Physiological signal integration in vivo not established
  8. 2010 High

    Revealed an AChE-independent role for ColQ in postsynaptic differentiation, showing that ColQ deficiency disrupts MuSK surface levels, AChR clustering, β-AChR phosphorylation, and AChE secretion.

    Evidence Loss-of-function comparison in cultured muscle cells and at the NMJ in vivo with immunofluorescence and biochemical readouts; qPCR and AChE activity assays

    PMID:20053883 PMID:20153305

    Open questions at the time
    • Direct molecular link between ColQ and MuSK was not yet established
    • Mechanism coupling ColQ to AChR subunit transcription unclear
  9. 2013 Medium

    Separated the AChE-anchoring and signaling functions of the ColQ C-terminus, showing C-terminal mutations preserve AChE assembly and perlecan binding but impair MuSK and basement-membrane interactions.

    Evidence Mutant ColQ expression with co-immunoprecipitation against perlecan and MuSK and basement membrane extract binding

    PMID:24281389

    Open questions at the time
    • The additional basal lamina partner inferred beyond MuSK was not identified
    • Single-lab co-IP without orthogonal binding quantification
  10. 2015 High

    Defined the molecular logic of a COLQ exon 16 splicing mutation as antagonistic SRSF1/hnRNP H binding and impaired U1-70K recruitment, explaining exon skipping in disease.

    Evidence RNA affinity purification, mass spectrometry, SRSF1/hnRNP H knockdown, MS2 tethering, minigene assays, spliceosome complex isolation, RNA-seq

    PMID:26282582

    Open questions at the time
    • Did not address whether other COLQ exons share this regulatory logic
    • Therapeutic correction of splicing not tested
  11. 2016 Medium

    Demonstrated that ColQ controls postsynaptic maturation through synaptic gene expression, with ColQ deficiency upregulating all AChR subunit mRNAs and producing mixed mature/immature AChRs and altered ECM expression.

    Evidence Genetic screening and gene expression profiling of ColQ-deficient mice with NMJ morphological analysis

    PMID:26993635

    Open questions at the time
    • Single-lab in vivo profiling
    • Direct signaling intermediaries to subunit transcription not pinpointed
  12. 2019 Medium

    Showed that β-adrenergic agonism rescues NMJ structure and muscle strength in ColQ-deficient mice, localizing the therapeutic effect to the postsynaptic membrane.

    Evidence In vivo salbutamol treatment of ColQ-/- mice with grip strength and NMJ morphometry

    PMID:31220253

    Open questions at the time
    • Molecular target of β-adrenergic rescue at the NMJ not defined
    • Single-model, single-lab study
  13. 2023 High

    Established that ColQ binds LRP4 directly (not MuSK directly), competes with agrin, and exerts opposing effects on MuSK phosphorylation versus surface accumulation, providing the receptor-level mechanism for ColQ control of postsynaptic signaling.

    Evidence Co-immunoprecipitation, pull-down, plate-binding, and SPR; patient COLQ variant analysis in COS cells and iPSC-derived muscle cells

    PMID:37356721 PMID:38003406

    Open questions at the time
    • Structural basis of the ColQ-LRP4 interface not resolved
    • How the two opposing effects are temporally integrated during synaptogenesis unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • The non-junctional functions of ColQ, the identity of additional basal lamina partners beyond LRP4/perlecan, and the structural mechanism by which ColQ tunes LRP4-MuSK signaling remain open.
  • No structure of the ColQ-LRP4 complex
  • Functional significance of reported myenteric plexus localization unestablished
  • Integration of competing agrin/ColQ inputs in vivo not resolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0060090 molecular adaptor activity 2 GO:0008289 lipid binding 1 GO:0098772 molecular function regulator activity 1
Localization
GO:0005886 plasma membrane 2 GO:0031012 extracellular matrix 2
Pathway
GO:0140110 transcription regulator activity 3 R-HSA-1266738 Developmental Biology 2 R-HSA-162582 Signal Transduction 1
Partners
ACHEHNRNPHLRP4MUSKPERLECAN/HSPG2SRSF1
Complex memberships
asymmetric acetylcholinesterase (collagen-tailed AChE)

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 Human COLQ encodes the collagen-like tail subunit (ColQ) of asymmetric acetylcholinesterase (AChE). Truncation mutations proximal to the ColQ attachment domain for AChE prevent association of ColQ with AChE catalytic subunits (ACHET); mutations distal to the attachment domain generate a ~10.5S species lacking the C-terminal domain required for triple collagen helix formation, preventing insertion into the synaptic basal lamina. COS cell coexpression of COLQ mutants with wild-type ACHET, sedimentation analysis, mutation analysis in patients with endplate AChE deficiency Proceedings of the National Academy of Sciences of the United States of America High 9689136
1998 A missense mutation Y431S in the conserved C-terminal domain of COLQ causes congenital myasthenic syndrome type Ic (endplate AChE deficiency), mapped to chromosome 3p24.2; the C-terminal domain is required for attachment of collagen-tailed AChE to the neuromuscular junction basal lamina. Linkage analysis, Sanger sequencing, chromosomal mapping in a large consanguineous family American journal of human genetics Medium 9758617
1999 A splice-donor-site mutation at IVS16+3A→G in COLQ causes exon 16 skipping, demonstrated using a minigene in COS cells. Normal splicing requires concordance of nucleotides at positions +4 to +6 with U1 snRNA; restoring complementarity at +4 or +6 rescues normal splicing. Minigene splicing assay in COS cells, site-directed mutagenesis, analysis of U1 snRNA base-pairing American journal of human genetics High 10441569
2003 ColQ contains two distinct heparin-binding domains within its triple-helical collagen domain; each domain has different affinity for heparin determined not solely by basic residue number but also by local structural features of the triple helix, which can be influenced by distant regions within ColQ. Heparin affinity chromatography of ColQ mutants carrying mutations in each predicted heparin-binding domain The Journal of biological chemistry High 12684510
2004 The COLQ gene contains two distinct promoters (pColQ-1 and pColQ-1a) driving differential expression of ColQ-1 and ColQ-1a transcripts in slow- and fast-twitch muscle fibers, respectively. Slow fiber-specific expression is regulated by a SURE element and an NFAT binding site in pColQ-1; fast fiber-specific expression is regulated by a FIRE element in pColQ-1a. Both promoters contain N-box elements responsible for synapse-specific expression. In vivo DNA transfection into soleus and tibialis muscles, promoter-reporter assays in cultured myotubes, mutation analysis of regulatory elements, calcineurin inhibition with cyclosporine A The Journal of biological chemistry High 15102835
2005 ColQ associates with the proline-rich attachment domain (PRAD) of ColQ via the tryptophan amphiphilic tetramerization (WAT) domain of AChE(T) subunits. The ColQ PRAD region contains two cysteines disulfide-linked to AChE(T) subunits forming a 'heavy' dimer, while the other two AChE subunits are disulfide-linked together as a 'light' dimer—a distinct arrangement from PRiMA-associated AChE tetramers. Block normal mode analysis of crystal structure-based atomic model of tetrameric [AChE(T)]4-ColQ complex PLoS computational biology Medium 16299589
2007 CGRP (calcitonin gene-related peptide) selectively induces expression of the ColQ-1a transcript (but not ColQ-1) via cAMP-CREB signaling. Two CRE sites in the pColQ-1a promoter are required; mutation of both CRE sites abolishes CGRP/cAMP responsiveness. CGRP receptor complex is predominantly expressed at neuromuscular junctions of fast muscle, explaining fast fiber-specific regulation. CGRP and Bt2-cAMP application to cultured myotubes, promoter-reporter assays, site-directed mutagenesis of CRE sites, adenylyl cyclase inhibitor, dominant-negative CREB overexpression Journal of neurochemistry High 17488278
2008 ColQ associates differently with its two anchoring proteins: in complexes with ColQ PRAD, AChE(T) forms 'heavy' dimers (two subunits disulfide-linked to ColQ cysteines) and 'light' dimers; in complexes with PRiMA PRAD, light dimers predominate and heavy dimers are rare. The two cysteines upstream of the ColQ PRAD are responsible for this differential disulfide architecture. Transfection of COS cells with ColQ/PRiMA constructs and chimeras, non-reducing SDS-PAGE, comparison of mammalian brain complexes The Journal of biological chemistry High 18511416
2008 Acetylcholine/nicotine stimulation of cultured myotubes induces ColQ-1 and ColQ-1a mRNA expression via CaMKII phosphorylation and downstream MEF2 activation. Overexpression of active CaMKII or MEF2 increases both ColQ transcripts; MEF2 potentiates CaMKII-induced ColQ expression. Acetylcholine/nicotine treatment of C2C12 myotubes, CaMKII phosphorylation assays, overexpression of active CaMKII mutant and MEF2 Molecular and cellular neurosciences Medium 18718538
2010 ColQ controls postsynaptic differentiation at the neuromuscular junction independent of its AChE-anchoring role: absence of ColQ leads to smaller, more densely-packed AChR clusters both in vitro and in vivo, decreased membrane-bound MuSK protein (despite increased MuSK mRNA), altered MuSK signaling pathway activation, perturbation of AChR clustering and β-AChR subunit phosphorylation, and modifications of AChR mRNA levels through ColQ-MuSK interaction. Comparison of wild-type and ColQ-deficient muscle cells in culture and at NMJ in vivo; immunofluorescence, biochemical analysis of MuSK and AChR clustering The Journal of neuroscience : the official journal of the Society for Neuroscience High 20053883
2010 In the absence of ColQ, AChE(R) and AChE(T) mRNAs are upregulated in muscle cells in vitro and in vivo, but AChE secretion into the medium is impaired. PRiMA mRNA is downregulated in the absence of ColQ. Overexpression of AChE but not ColQ alone drives AChE cluster formation. ColQ-deficient mouse and cell culture models, qPCR, AChE activity assays in conditioned medium Chemico-biological interactions Medium 20153305
2013 COOH-terminal mutations in ColQ do not affect assembly of ColQ with AChE or impair interaction with perlecan, but do impair interaction with MuSK and with basement membrane extract lacking detectable MuSK. This indicates the ColQ C-terminus interacts with additional basal lamina proteins beyond MuSK. Expression of mutant ColQ constructs, co-immunoprecipitation with perlecan and MuSK, basement membrane extract binding assays Human genetics Medium 24281389
2015 An A-to-G mutation predicting p.E415G in COLQ exon 16 causes exclusive exon 16 skipping by disrupting binding of splicing-enhancing protein SRSF1 and de novo gaining binding of splicing-suppressing protein hnRNP H. SRSF1 and hnRNP H antagonistically regulate splicing by binding exclusively to the target site; the mutation also impairs binding of U1-70K to the downstream 5′ splice site. RNA affinity purification, mass spectrometry, siRNA knockdown of SRSF1 and hnRNP H, MS2-mediated artificial tethering, minigene splicing assays, early spliceosome complex isolation, RNA-seq Scientific reports High 26282582
2016 ColQ deficiency leads to upregulation of all five nicotinic AChR subunit mRNAs, resulting in mixed mature and immature AChRs at the NMJ of adult ColQ-/- mice. ColQ also regulates ECM component expression (ECM mRNAs downregulated in vitro but compensated in vivo) and controls maturation of the postsynaptic domain through regulation of synaptic gene expression. Large-scale genetic screening and gene expression analysis of ColQ-deficient mice; NMJ and muscle phenotype analysis including AChR subunit expression profiling FASEB journal : official publication of the Federation of American Societies for Experimental Biology Medium 26993635
2019 Salbutamol (β-adrenergic agonist) treatment of ColQ-/- mice leads to gradual improvement in muscle strength and structural improvements at the postsynaptic NMJ including increased synaptic area, AChR area and density, and extent of postjunctional folds, without changes in muscle fiber size or type. This demonstrates that β-adrenergic signaling acts primarily at the postsynaptic membrane. In vivo drug treatment of ColQ-/- mice (7 weeks daily injection), grip strength testing, NMJ morphological analysis Human molecular genetics Medium 31220253
2023 ColQ binds directly to LRP4 (not directly to MuSK), interacting indirectly with MuSK through LRP4. The LRP4 N-terminal region containing agrin-binding sites is also crucial for ColQ binding. ColQ and agrin compete for binding to LRP4. ColQ has two opposing effects on agrin-induced MuSK-LRP4 signaling: it constitutively reduces MuSK phosphorylation levels in agrin-stimulated myotubes but increases MuSK accumulation at the muscle cell surface. Co-immunoprecipitation, pull-down assays, plate-binding assays, surface plasmon resonance (SPR) The Journal of biological chemistry High 37356721
2023 A C-terminal splice site variant in COLQ (c.1281 C>T) alters the last 28 amino acids without impairing collagen triple helix formation, AChE association, or secretion of hetero-oligomers, but reduces interaction of ColQ with LRP4 by 44% and increases all AChR subunit mRNA levels in patient iPSC-derived muscle cells. COS cell and mouse muscle cell expression of COLQ variant, biochemical interaction assays with LRP4, iPSC-derived muscle cell analysis, AChR subunit mRNA quantification International journal of molecular sciences Medium 38003406
2012 ColQ interaction with MuSK is required for NMJ development and maintenance: ColQ controls aspects of postsynaptic differentiation such as AChR clustering through its interaction with MuSK, suggesting that defects in ColQ signaling (not only AChE deficiency) contribute to the pathophysiology of synaptic congenital myasthenic syndromes. Review/summary of cell culture and in vivo data from ColQ-deficient models analyzing MuSK interaction and postsynaptic differentiation Chemico-biological interactions Low 23089045
2005 ColQ PRAD-AChE interaction: the crystal structure of the WAT-PRAD complex was used to build a tetrameric [AChE(T)]4-ColQ atomic model. Normal mode analysis shows significant low-frequency motions among catalytic domains of the four AChE subunits while the [WAT]4PRAD holds the complex together, supporting a flexible tetramer model. Atomic model building from crystal structure coordinates, energy minimization, block normal mode analysis PLoS computational biology Low 16299589
2053 COLQ protein localizes to the myenteric plexus in the colon, as demonstrated by immunohistochemistry of colon tissue from diverticulitis patients. Immunohistochemistry of human colon tissue The Journal of surgical research Low 34225052

Source papers

Stage 0 corpus · 87 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1998 Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proceedings of the National Academy of Sciences of the United States of America 208 9689136
1990 The Epstein-Barr virus (EBV) BMRF1 promoter for early antigen (EA-D) is regulated by the EBV transactivators, BRLF1 and BZLF1, in a cell-specific manner. Journal of virology 146 2164595
1998 Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). American journal of human genetics 132 9758617
2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain : a journal of neurology 122 18180250
2000 A protein kinase activity associated with Epstein-Barr virus BGLF4 phosphorylates the viral early antigen EA-D in vitro. Journal of virology 92 10708424
1999 Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? American journal of human genetics 73 10441569
2017 Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. Nature communications 69 28585551
2010 ColQ controls postsynaptic differentiation at the neuromuscular junction. The Journal of neuroscience : the official journal of the Society for Neuroscience 69 20053883
2011 Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscular disorders : NMD 63 22088788
2002 Phosphorylation of the Epstein-Barr virus (EBV) DNA polymerase processivity factor EA-D by the EBV-encoded protein kinase and effects of the L-riboside benzimidazole 1263W94. Journal of virology 56 11773375
2002 Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 47 11865139
2003 Two different heparin-binding domains in the triple-helical domain of ColQ, the collagen tail subunit of synaptic acetylcholinesterase. The Journal of biological chemistry 41 12684510
2006 The role of late I and antiarrhythmic drugs in EAD formation and termination in Purkinje fibers. Journal of cardiovascular electrophysiology 36 16686685
2019 Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Human molecular genetics 35 31220253
2004 Transcriptional regulation of acetylcholinesterase-associated collagen ColQ: differential expression in fast and slow twitch muscle fibers is driven by distinct promoters. The Journal of biological chemistry 34 15102835
1997 A major DNA binding protein encoded by BALF2 open reading frame of Epstein-Barr virus (EBV) forms a complex with other EBV DNA-binding proteins: DNAase, EA-D, and DNA polymerase. Virology 34 9434720
2015 SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. Scientific reports 33 26282582
2009 Field attractants for Pachnoda interrupta selected by means of GC-EAD and single sensillum screening. Journal of chemical ecology 32 19768509
2014 EAD and DAD mechanisms analyzed by developing a new human ventricular cell model. Progress in biophysics and molecular biology 31 25192800
2003 Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. Neuromuscular disorders : NMD 31 12609505
2015 COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Animal genetics 29 26374066
2013 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina. Human genetics 26 24281389
2004 Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 22 15248101
2012 Recurrent COLQ mutation in congenital myasthenic syndrome. Pediatric neurology 21 22490774
2016 Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20 26993635
1997 Serum responses to the combination of Epstein-Barr virus antigens from both latent and acute phases in nasopharyngeal carcinoma: complementary test of EBNA-1 with EA-D. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 20 9149897
1995 Functional analysis of EA-D of Epstein-Barr virus. Virology 20 7645263
2014 A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. PloS one 19 25166616
2012 Developmental consequences of the ColQ/MuSK interactions. Chemico-biological interactions 19 23089045
1993 Epstein-Barr virus (EBV) replication and expressions of EA-D (BMRF1 gene product), virus-specific deoxyribonuclease, and DNA polymerase in EBV-activated Akata cells. Virology 17 8396819
2005 The association of tetrameric acetylcholinesterase with ColQ tail: a block normal mode analysis. PLoS computational biology 16 16299589
2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. Pediatric neurology 15 24938146
2008 Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA. The Journal of biological chemistry 15 18511416
2007 Calcitonin gene-related peptide induces the expression of acetylcholinesterase-associated collagen ColQ in muscle: a distinction in driving two different promoters between fast- and slow-twitch muscle fibers. Journal of neurochemistry 15 17488278
2007 Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. Neuromuscular disorders : NMD 14 17300939
2023 The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. The Journal of biological chemistry 13 37356721
2021 Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene. Frontiers in pediatrics 13 34912755
2016 Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia. Neurology. Genetics 11 27830186
2013 EA-D p45-IgG as a potential biomarker for nasopharyngeal carcinoma diagnosis. Asian Pacific journal of cancer prevention : APJCP 11 24460315
1998 Effect of genetic background on Ea(d) transgene-mediated protection from murine lupus. Journal of autoimmunity 11 9693972
2017 Myofilament protein dynamics modulate EAD formation in human hypertrophic cardiomyopathy. Progress in biophysics and molecular biology 10 28648627
2015 A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PloS one 10 26327126
1991 Erythrocyte alloantigen loci Ea-D and Ea-I map to chromosome 1 in the chicken. Animal genetics 10 1789498
2020 The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein. Genes 9 33353066
2005 Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. Chemico-biological interactions 9 16256971
1987 Characterization of the Epstein-Barr virus-induced early polypeptide complex p50/58 EA-D using rabbit antisera, a monoclonal antibody, and human antibodies. Virology 9 3029983
2019 Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 8 31831253
2008 Myocyte enhancer factor 2 mediates acetylcholine-induced expression of acetylcholinesterase-associated collagen ColQ in cultured myotubes. Molecular and cellular neurosciences 8 18718538
2000 Protection of murine lupus by the Ead transgene is MHC haplotype-dependent. Journal of immunology (Baltimore, Md. : 1950) 8 10605048
2025 Characterization of Mass Spectrometry Fragmentation Patterns Under Electron-Activated Dissociation (EAD) for Rapid Structure Identification of Nitazene Analogs. Rapid communications in mass spectrometry : RCM 7 40130801
2024 Identification and screening of umami peptides from skipjack tuna (Katsuwonus pelamis) hydrolysates using EAD/CID based micro-UPLC-QTOF-MS and the molecular interaction with T1R1/T1R3 taste receptor. Journal of chromatography. A 7 39181096
2011 A tetrameric acetylcholinesterase from the parasitic nematode Dictyocaulus viviparus associates with the vertebrate tail proteins PRiMA and ColQ. Molecular and biochemical parasitology 7 22027027
2023 Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations. Current neuropharmacology 6 36703579
2022 Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature. BMC neurology 6 35932018
2022 Epstein-Barr Virus Viral Processivity Factor EA-D Facilitates Virus Lytic Replication by Inducing Poly(ADP-Ribose) Polymerase 1 Degradation. Journal of virology 6 36286483
2021 COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. The Journal of surgical research 6 34225052
2018 Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency. Journal of integrative neuroscience 6 29630557
2017 COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review. Translational neuroscience 6 28744372
2024 Exploring the therapeutic potential of endolysin CD27L_EAD against Clostridioides difficile infection. International journal of antimicrobial agents 5 38810936
2020 A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report. Neuromuscular disorders : NMD 5 33487521
2019 Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. Journal of veterinary internal medicine 5 31769119
2010 Cholinesterases regulation in the absence of ColQ. Chemico-biological interactions 5 20153305
2006 Accumulation of Epstein-Barr virus (EBV) BMRF1 protein EA-D during latent EBV activation of Burkitt's lymphoma cell line Raji. Microbes and infection 5 17223371
1996 Chromosomal assignment of porcine EAD, EAO, LPR and P3 genes by linkage analysis. Animal genetics 5 8856902
1991 Alteration of the T-cell receptor repertoire in A.CA mice expressing an Ead transgene. Immunogenetics 5 2010220
2024 COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. Orphanet journal of rare diseases 4 38475910
2023 COLQ-related congenital myasthenic syndrome: An integrative view. Neurogenetics 4 37231228
2023 COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature. Heliyon 4 37809778
2012 Expression of cAMP-responsive element binding proteins (CREBs) in fast- and slow-twitch muscles: a signaling pathway to account for the synaptic expression of collagen-tailed subunit (ColQ) of acetylcholinesterase at the rat neuromuscular junction. Chemico-biological interactions 4 23159887
2024 Causal relationships between three plasma proteins and non-alcoholic fatty liver disease, mediated by Epstein-Barr virus EA-D antibody levels: a mendelian randomization study. Scientific reports 2 39463412
1993 Decreased density of forebrain cholinergic neurons and disintegration of the spatial organization of behavior in experimental autoimmune dementia (EAD). Annals of the New York Academy of Sciences 2 8239291
1987 Expression of an early Epstein-Barr virus antigen (EA-D) in E. coli. Brief report. Archives of virology 2 2827613
2025 Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1 40704522
2023 Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect. Heliyon 1 36798769
2023 Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers. Clinical case reports 1 37881193
2023 Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. International journal of molecular sciences 1 38003406
2020 Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ. Stem cell research 1 33370874
2026 Multilevel Characterization of a Chemoenzymatic Conjugated ADC by icIEF-UV/MS and RP-HPLC-MS EAD Fragmentation Peptide Map. Electrophoresis 0 41527792
2026 Distinguishing Ile/Leu Variant Ligands in the Immunopeptidome Using Hybrid EAD + CID Fragmentation (ExCID). Analytical chemistry 0 42228098
2025 EAD Mechanisms in Hypertrophic Mouse Ventricular Myocytes: Insights from a Compartmentalized Mathematical Model. Bulletin of mathematical biology 0 39992477
2025 In vitro characterization of PHICD111_20024_EAD as an engineered endolysin against Clostridioides difficile. Journal of global antimicrobial resistance 0 40845944
2025 Effects of COLQ Gene Missense Mutations on Growth and Meat Traits in Leizhou Black Goats. Animals : an open access journal from MDPI 0 40941413
2025 Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene Therapy. Human gene therapy 0 41058509
2023 Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families. Revue neurologique 0 36764859
2011 [Group B streptococcus (GBS) infection in newborns in university hospital "Maichin Dom" EAD Sofia for the period 2008-2010]. Akusherstvo i ginekologiia 0 22482156
2008 One amino acid difference is critical for suppression of the development of experimental autoimmune diabetes (EAD) with intravenous injection of insulinB:9-23 peptide. Biochemical and biophysical research communications 0 18647597
1989 [Polyacrylamide gel electrophoresis (PAGE) as a method for detecting enteric adenovirus (EAd)]. Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 0 2560412

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