Affinage

TBCE

Tubulin-specific chaperone E · UniProt Q15813

Length
527 aa
Mass
59.3 kDa
Annotated
2026-06-10
100 papers in source corpus 12 papers cited in narrative 12 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

TBCE (tubulin-specific chaperone E) is a molecular chaperone essential for the folding of alpha-tubulin and the formation, dissociation, and recycling of alpha-beta-tubulin heterodimers, thereby controlling the supply of polymerization-competent tubulin and microtubule integrity in vivo (PMID:12389028, PMID:17184771, PMID:27666369). TBCE acts together with TBCB as a binary complex that catalyzes heterodimer dissociation; after dissociation TBCE, TBCB, and alpha-tubulin form a ternary complex while free beta-tubulin is recovered by TBCA (PMID:17184771). Structural reconstruction of this ternary complex shows that dissociation is energy-independent and proceeds through steric disruption of the alpha-beta interface by the TBCE CAP-Gly and LRR domains contacting beta-tubulin, with protruding UBL domains positioned for proteasomal targeting of alpha-tubulin (PMID:25908846). Within this system TBCE/TBCB together with TBCA sets the critical concentration of free tubulin heterodimers and tunes microtubule dynamics by recycling heterodimers (PMID:33968934). TBCE is a peripheral membrane-associated protein that accumulates at the Golgi apparatus in motor neurons, where it routes newly assembled tubulin into distal axons; its destabilization causes retrograde loss of axonal microtubules (PMID:17699660). Loss of TBCE function produces microtubule deficits across diverse cell types — motor and auditory neurons and mitotic cells — manifesting as progressive motor neuronopathy in mice and as hypoparathyroidism-retardation-dysmorphism (HRD)/Kenny-Caffey syndrome and early-onset encephalopathy with distal spinal muscular atrophy in humans (PMID:12389028, PMID:12389029, PMID:27666369, PMID:24120439).

Mechanistic history

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

    Established TBCE as a disease gene and an in vivo tubulin chaperone by linking loss-of-function mutations to defined cytoskeletal and organelle defects.

    Evidence Patient mutation identification with immunofluorescence and electron microscopy of HRD/Kenny-Caffey fibroblasts and lymphoblastoid cells

    PMID:12389028

    Open questions at the time
    • Did not resolve the biochemical step (folding vs. heterodimer assembly) TBCE catalyzes
    • No structural basis for tubulin interaction
  2. 2002 High

    Demonstrated causality of TBCE for microtubule maintenance in motor axons in mammals, showing the defect is one of protein stability and tubulin assembly.

    Evidence pmn mouse genetics (Trp524Gly), nerve electron microscopy, immunofluorescence of isolated motoneurons, and transgenic complementation rescue

    PMID:12389029 PMID:12446740

    Open questions at the time
    • Mechanism connecting tubulin assembly defect to retrograde degeneration not defined
    • Subcellular site of TBCE action not yet identified
  3. 2006 High

    Defined the molecular machinery of heterodimer turnover, showing TBCE acts with TBCB to dissociate dimers and forms a TBCE-TBCB-alpha-tubulin ternary complex.

    Evidence Co-immunoprecipitation, in vitro tubulin dissociation assays, and TBCB overexpression in cells

    PMID:17184771

    Open questions at the time
    • Structural mechanism of dissociation unknown
    • Fate of alpha-tubulin in the ternary complex not established
  4. 2006 Medium

    Explained survival of patients with otherwise null alleles via cryptic upstream translation, framing limiting de novo heterodimer folding capacity as a pathogenic axis.

    Evidence In vitro translation and functional rescue assays in TBCE-deficient cells characterizing upstream AUG initiation

    PMID:16938882

    Open questions at the time
    • Quantitative threshold of TBCE needed for viability not determined
    • Generality of cryptic initiation across mutant alleles unknown
  5. 2007 High

    Localized TBCE function to the Golgi, establishing a Golgi-dependent route for axonal tubulin supply that explains distal-to-proximal axonal failure.

    Evidence Immunofluorescence, subcellular fractionation, transgenic complementation, RNAi depletion, and brefeldin A Golgi disruption in cultured motor neurons

    PMID:17699660

    Open questions at the time
    • Molecular tether anchoring TBCE to the Golgi not identified
    • How Golgi-routed tubulin enters axons mechanistically unresolved
  6. 2013 Medium

    Extended TBCE's microtubule-maintenance role to auditory hair cells, accounting for sensorineural hearing loss in the disease spectrum.

    Evidence Immunohistochemical TBCE localization, ABR/DPOAE measurement, cochlear histology, and apoptosis assays in pmn mice

    PMID:24120439

    Open questions at the time
    • Single lab; mechanism of hair-cell-selective vulnerability not defined
    • Link between tubulin disturbance and apoptosis not delineated
  7. 2015 High

    Provided the structural mechanism of heterodimer dissociation, showing it is energy-independent steric disruption and positioning UBL domains for proteasomal alpha-tubulin degradation.

    Evidence Cryo-EM 3D reconstruction of the TBCE-TBCB-alpha-tubulin complex, X-ray crystallography of the TBCE UBL domain, and in vitro biochemical dissociation assays

    PMID:25908846

    Open questions at the time
    • Direct UBL-proteasome interaction inferred from docking, not demonstrated biochemically
    • Full-length high-resolution structure not determined
  8. 2009 Medium

    Broadened the organ-level consequences of TBCE loss to pituitary and white matter development, implicating it beyond peripheral tubulin assembly.

    Evidence Confirmed TBCE genotype with brain MRI and pituitary function testing across multiple HRD pedigrees

    PMID:19491227

    Open questions at the time
    • No cell-biological experiment connecting TBCE loss to pituitary/white-matter phenotype
    • Tissue-specific mechanism unknown
  9. 2016 High

    Showed that hypomorphic TBCE alleles drive neurodegeneration primarily through impaired microtubule polymerization and mitotic spindle defects.

    Evidence Western blot, polymerized-vs-free tubulin fractionation, nocodazole washout re-polymerization assay, and spindle immunofluorescence in patient fibroblasts (p.Ile155Asn)

    PMID:27666369

    Open questions at the time
    • Whether degradation vs. folding defect dominates not separated
    • Single lab; one allele studied
  10. 2021 Medium

    Positioned the TBCE/TBCB+TBCA system as a controller of free heterodimer concentration and a druggable node, with colchicine inhibiting TBCE-mediated dissociation.

    Evidence In vitro dissociation assays with colchicine, western blot of TBCA complexes in treated human cells, and TBCA RNAi/overexpression

    PMID:33968934

    Open questions at the time
    • Direct TBCE-colchicine binding not demonstrated
    • Physiological relevance of colchicine inhibition in vivo unknown
  11. 2022 Medium

    Implicated TBCE in cancer chemoresistance, linking its cytoskeletal function to cisplatin sensitivity in hepatocellular carcinoma.

    Evidence RNAseq, TBCE RNAi, cell cycle and apoptosis assays, and nanoparticle siTBCE/cisplatin co-delivery in orthotopic and PDX models

    PMID:36970197

    Open questions at the time
    • Single tumor type and lab
    • Mechanism linking TBCE-dependent polymerization to platinum resistance not fully resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • Whether TBCE's UBL domains directly engage the proteasome to degrade alpha-tubrin, and how TBCE is recruited and anchored at the Golgi, remain unresolved.
  • No biochemical demonstration of UBL-proteasome engagement
  • Golgi-anchoring partner of TBCE unidentified
  • Tissue-specific factors explaining differential cellular vulnerability unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0044183 protein folding chaperone 3 GO:0140096 catalytic activity, acting on a protein 2
Localization
GO:0005794 Golgi apparatus 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-392499 Metabolism of proteins 3
Partners
TBCATBCBTUBA (ALPHA-TUBULIN)TUBB (BETA-TUBULIN)
Complex memberships
TBCE-TBCB binary complexTBCE-TBCB-alpha-tubulin ternary complex

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 Deletion and truncation mutations in TBCE cause hypoparathyroidism-retardation-dysmorphism (HRD) syndrome and autosomal recessive Kenny-Caffey syndrome. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the MTOC and perturbed microtubule polarity, with disturbances in Golgi and late endosomal compartments, establishing TBCE as a tubulin chaperone essential for alpha-tubulin folding and alpha-beta-tubulin heterodimer formation in vivo. Patient mutation identification, immunofluorescence, ultrastructural electron microscopy of diseased fibroblasts and lymphoblastoid cells Nature genetics High 12389028
2002 A missense mutation (Trp524Gly) at the last residue of Tbce causes progressive motor neuronopathy in mice by decreasing protein stability, resulting in reduced microtubule numbers in sciatic and phrenic nerves. Transgenic complementation with wild-type Tbce cDNA restored the normal phenotype, establishing that TBCE is critical for microtubule maintenance in motor axons. Mouse genetics, electron microscopy of nerves, transgenic complementation Nature genetics High 12389029
2002 A missense mutation in the tubulin-specific chaperone E (Tbce) gene in pmn mice causes distorted beta-tubulin and tau immunoreactivity in motor neuron axons, with shorter axons and axonal swelling in isolated motoneurons, demonstrating that TBCE is essential for the formation of alpha-beta-tubulin heterodimeric complexes and that altered tubulin assembly leads to retrograde motor axon degeneration. Genetic mapping, immunofluorescence of isolated motoneurons, morphological analysis The Journal of cell biology High 12446740
2006 TBCE and TBCB form a binary complex that greatly enhances the efficiency of tubulin heterodimer dissociation both in vivo and in vitro. After dissociation, TBCE, TBCB, and alpha-tubulin form a ternary complex, while free beta-tubulin is recovered by TBCA. Overexpression of TBCB depolymerizes microtubules through this mechanism. Co-immunoprecipitation, in vitro tubulin dissociation assays, overexpression experiments in cells Experimental cell research High 17184771
2006 Cryptic out-of-frame translational initiation at upstream AUG codons in a mutant HRD TBCE allele can produce a functional TBCE protein, rescuing tubulin heterodimer formation. This mechanism explains how individuals with otherwise null TBCE mutations can survive, pointing to limiting de novo tubulin heterodimer folding capacity as a disease pathogenesis factor. In vitro translation assays, functional rescue assays in TBCE-deficient cells, molecular characterization of upstream AUG codons Proceedings of the National Academy of Sciences of the United States of America Medium 16938882
2007 TBCE is a peripheral membrane-associated protein that accumulates at the Golgi apparatus in motor neurons. In pmn mice, TBCE is destabilized and disappears from the Golgi, leading to loss of microtubules in distal axons in a retrograde pattern. Transgenic TBCE complementation restores Golgi localization and prevents axonal degeneration. RNAi-mediated depletion of TBCE and brefeldin A-mediated Golgi disruption both impair axonal tubulin routing, establishing a critical role for TBCE at the Golgi in axonal tubulin supply. Immunofluorescence, subcellular fractionation, transgenic complementation, RNAi knockdown, brefeldin A treatment of cultured motor neurons The Journal of neuroscience High 17699660
2015 Cryo-EM and image processing revealed the 3D structure of the human TBCE-TBCB-alpha-tubulin (αEB) ternary complex formed upon heterodimer dissociation. Docking showed that heterodimer dissociation is energy-independent and occurs through steric disruption of the alpha-beta-tubulin interface caused by the TBCE CAP-Gly and LRR domains contacting beta-tubulin. The protruding UBL domains of the complex suggest direct interaction with the proteasome, mediating alpha-tubulin degradation. X-ray crystallography determined the structure of the TBCE UBL domain. Electron microscopy and image processing (3D reconstruction), X-ray crystallography of TBCE UBL domain, domain docking, in vitro biochemical dissociation assays Journal of cell science High 25908846
2016 Biallelic TBCE mutations (p.Ile155Asn) cause early-onset progressive encephalopathy with distal spinal muscular atrophy. Patient fibroblasts showed reduced TBCE protein levels, reduced polymerized alpha-tubulin, markedly delayed microtubule re-polymerization after nocodazole washout, and abnormal mitotic spindles, establishing that hypomorphic TBCE mutations primarily drive neurodegeneration through impaired microtubule polymerization. Western blot, biochemical fractionation of polymerized vs. free tubulin, nocodazole washout microtubule re-polymerization assay, immunofluorescence of mitotic spindles in patient fibroblasts American journal of human genetics High 27666369
2009 Homozygous mutation of TBCE (c.155-166del12; p.del52-55) is associated with hypoplasia of the anterior pituitary and corpus callosum, GH insufficiency, and hypocortisolemia in HRD syndrome patients, suggesting TBCE plays a role in development of the anterior pituitary and white matter in addition to its known role in tubulin assembly. Genetic confirmation of TBCE mutation, brain MRI, pituitary function testing in six children from four pedigrees The Journal of clinical endocrinology and metabolism Medium 19491227
2013 Mutation of TBCE (Trp524Gly) in pmn/pmn mice causes disturbance of tubulin structures in the auditory nerve and progressive outer hair cell loss by apoptosis, accompanied by progressive sensorineural hearing loss. TBCE protein is selectively expressed in outer hair cells and inner pillar cell processes of the cochlea, establishing a role for TBCE in maintaining microtubule integrity in auditory hair cells. Immunohistochemistry for TBCE localization, ABR threshold measurement, DPOAE measurement, histological analysis of cochlear hair cell loss, apoptosis assays Experimental neurology Medium 24120439
2021 Colchicine inhibits tubulin heterodimer dissociation by TBCE/TBCB in vitro, likely by interfering with TBCE interactions with tubulin dimers, leading to accumulation of free TBCA. In cells, colchicine treatment causes a decrease in the TBCA/beta-tubulin complex and an increase in free TBCA not seen with other anti-mitotic agents. Manipulation of TBCA levels (by RNAi or overexpression) decreases tubulin heterodimer levels, establishing that the TBCE/TBCB+TBCA system controls the critical concentration of free tubulin heterodimers and microtubule dynamics by recycling heterodimers. In vitro tubulin dissociation assays with colchicine, western blot of TBCA complexes in colchicine-treated human cells, RNAi knockdown and overexpression of TBCA Frontiers in cell and developmental biology Medium 33968934
2022 TBCE silencing significantly affects cytoskeleton rearrangement (reduced tubulin polymerization), which increases cisplatin-induced cell cycle arrest and apoptosis in hepatocellular carcinoma cells. Nanoparticle co-delivery of siTBCE and cisplatin showed superior anti-tumor effects in orthotopic and PDX models, establishing that elevated TBCE expression contributes to platinum-based chemotherapy resistance through cytoskeletal effects. RNAseq analysis, RNAi knockdown of TBCE, cell cycle analysis, apoptosis assays, in vivo orthotopic and PDX tumor models with nanoparticle siRNA delivery Acta pharmaceutica Sinica. B Medium 36970197

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 Homologous Recombination Deficiency (HRD) Score Predicts Response to Platinum-Containing Neoadjuvant Chemotherapy in Patients with Triple-Negative Breast Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 867 26957554
1996 Role of 26S proteasome and HRD genes in the degradation of 3-hydroxy-3-methylglutaryl-CoA reductase, an integral endoplasmic reticulum membrane protein. Molecular biology of the cell 500 8970163
2006 A complex of Yos9p and the HRD ligase integrates endoplasmic reticulum quality control into the degradation machinery. Nature cell biology 190 16845381
2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature genetics 184 12389028
2001 Flow cytometric analysis of inflammatory markers in KCS: 6-month treatment with topical cyclosporin A. Investigative ophthalmology & visual science 175 11133852
2002 A missense mutation in Tbce causes progressive motor neuronopathy in mice. Nature genetics 137 12389029
2020 Defective ALC1 nucleosome remodeling confers PARPi sensitization and synthetic lethality with HRD. Molecular cell 123 33333017
2009 Usa1 functions as a scaffold of the HRD-ubiquitin ligase. Molecular cell 109 20005842
2002 An HRD/DER-independent ER quality control mechanism involves Rsp5p-dependent ubiquitination and ER-Golgi transport. The Journal of cell biology 106 12105183
2001 In vivo action of the HRD ubiquitin ligase complex: mechanisms of endoplasmic reticulum quality control and sterol regulation. Molecular and cellular biology 105 11390656
2017 Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature. Gynecologic oncology research and practice 102 28250960
2000 HRD gene dependence of endoplasmic reticulum-associated degradation. Molecular biology of the cell 95 10793145
2002 Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. The Journal of cell biology 91 12446740
2021 Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 90 33462368
2017 Homologous recombination deficiency (HRD) status predicts response to standard neoadjuvant chemotherapy in patients with triple-negative or BRCA1/2 mutation-associated breast cancer. Breast cancer research and treatment 87 29275435
2021 Association of RAD51 with homologous recombination deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial. Annals of oncology : official journal of the European Society for Medical Oncology 76 34520831
2022 Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD). NPJ precision oncology 75 35681079
2020 TBCRC 030: a phase II study of preoperative cisplatin versus paclitaxel in triple-negative breast cancer: evaluating the homologous recombination deficiency (HRD) biomarker. Annals of oncology : official journal of the European Society for Medical Oncology 64 32798689
2006 Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. Experimental cell research 63 17184771
2022 Homologous recombination deficiency (HRD) can predict the therapeutic outcomes of immuno-neoadjuvant therapy in NSCLC patients. Journal of hematology & oncology 62 35585646
2001 Active-site residues of a plant membrane-bound fatty acid elongase beta-ketoacyl-CoA synthase, FAE1 KCS. Biochimica et biophysica acta 62 11341960
2015 Genome-scale analysis of the cotton KCS gene family revealed a binary mode of action for gibberellin A regulated fiber growth. Journal of integrative plant biology 61 26399709
2015 Evolution of the KCS gene family in plants: the history of gene duplication, sub/neofunctionalization and redundancy. Molecular genetics and genomics : MGG 57 26563433
2009 Geranylgeranyl pyrophosphate is a potent regulator of HRD-dependent 3-Hydroxy-3-methylglutaryl-CoA reductase degradation in yeast. The Journal of biological chemistry 50 19776008
2006 Have you HRD? Understanding ERAD is DOAble! Cell 50 16873052
2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. American journal of human genetics 49 27666369
2009 Molecular cloning and characterization of a KCS gene from Cardamine graeca and its heterologous expression in Brassica oilseeds to engineer high nervonic acid oils for potential medical and industrial use. Plant biotechnology journal 49 19843251
2007 ER E3 ubiquitin ligase HRD-1 and its specific partner chaperone BiP play important roles in ERAD and developmental growth in Caenorhabditis elegans. Genes to cells : devoted to molecular & cellular mechanisms 49 17825049
2010 MUC1 expression in Sjogren's syndrome, KCS, and control subjects. Molecular vision 48 20806091
2008 Increase in nervonic acid content in transformed yeast and transgenic plants by introduction of a Lunaria annua L. 3-ketoacyl-CoA synthase (KCS) gene. Plant molecular biology 47 19082744
2007 Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus. The Journal of neuroscience : the official journal of the Society for Neuroscience 45 17699660
2008 MUC16 expression in Sjogren's syndrome, KCS, and control subjects. Molecular vision 42 19122828
2022 In-house testing for homologous recombination repair deficiency (HRD) testing in ovarian carcinoma: a feasibility study comparing AmoyDx HRD Focus panel with Myriad myChoiceCDx assay. Pathologica 41 36136896
1992 Construction and characterization of Streptomyces coelicolor A3(2) mutants that are multiply deficient in the nonessential hrd-encoded RNA polymerase sigma factors. Journal of bacteriology 40 1629177
2022 Effect of HIPEC according to HRD/BRCAwt genomic profile in stage III ovarian cancer: Results from the phase III OVHIPEC trial. International journal of cancer 39 35583992
2015 The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism. Journal of cell science 38 25908846
2022 Homologous Recombination Deficiency (HRD) and BRCA 1/2 Gene Mutation for Predicting the Effect of Platinum-Based Neoadjuvant Chemotherapy of Early-Stage Triple-Negative Breast Cancer (TNBC): A Systematic Review and Meta-Analysis. Journal of personalized medicine 36 35207810
2023 PARP inhibitor predictive value of the Leuven HRD test compared with Myriad MyChoice CDx PLUS HRD on 468 ovarian cancer patients from the PAOLA-1/ENGOT-ov25 trial. European journal of cancer (Oxford, England : 1990) 35 37245441
2022 Homologous recombination deficiency (HRD) score in aggressive prostatic adenocarcinoma with or without intraductal carcinoma of the prostate (IDC-P). BMC medicine 35 35864546
2022 Clinico-genomic Characterization of ATM and HRD in Pancreas Cancer: Application for Practice. Clinical cancer research : an official journal of the American Association for Cancer Research 35 36040493
1998 Mechanism of interferon action: identification of essential positions within the novel 15-base-pair KCS element required for transcriptional activation of the RNA-dependent protein kinase pkr gene. Journal of virology 35 9811730
2022 RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox? Expert review of molecular diagnostics 31 34913794
2015 Fabrication and Evaluation of Porous Keratin/chitosan (KCS) Scaffolds for Effectively Accelerating Wound Healing. Biomedical and environmental sciences : BES 31 25800442
2008 A new model of experimental autoimmune keratoconjunctivitis sicca (KCS) induced in Lewis rat by the autoantigen Klk1b22. Investigative ophthalmology & visual science 31 19060269
2021 Comprehensive analysis of KCS gene family in Citrinae reveals the involvement of CsKCS2 and CsKCS11 in fruit cuticular wax synthesis at ripening. Plant science : an international journal of experimental plant biology 28 34315590
2015 The structure of a dual-specificity tyrosine phosphorylation-regulated kinase 1A-PKC412 complex reveals disulfide-bridge formation with the anomalous catalytic loop HRD(HCD) cysteine. Acta crystallographica. Section D, Biological crystallography 28 25945585
2020 Genome-Wide Identification of Peanut KCS Genes Reveals That AhKCS1 and AhKCS28 Are Involved in Regulating VLCFA Contents in Seeds. Frontiers in plant science 26 32457765
2012 KCS1 deletion in Saccharomyces cerevisiae leads to a defect in translocation of autophagic proteins and reduces autophagosome formation. Autophagy 26 22889849
2022 Protocol for Isolation and Culture of Mouse Hepatocytes (HCs), Kupffer Cells (KCs), and Liver Sinusoidal Endothelial Cells (LSECs) in Analyses of Hepatic Drug Distribution. Methods in molecular biology (Clifton, N.J.) 25 35213033
2022 Genome-Wide Identification and Expression Profiling of KCS Gene Family in Passion Fruit (Passiflora edulis) Under Fusarium kyushuense and Drought Stress Conditions. Frontiers in plant science 25 35548275
2023 Implementing HRD Testing in Routine Clinical Practice on Patients with Primary High-Grade Advanced Ovarian Cancer. Cancers 24 36765776
2022 Homologous recombination deficiency (HRD) signature-3 in ovarian and uterine carcinosarcomas correlates with preclinical sensitivity to Olaparib, a poly (adenosine diphosphate [ADP]- ribose) polymerase (PARP) inhibitor. Gynecologic oncology 24 35599167
2009 Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. The Journal of clinical endocrinology and metabolism 23 19491227
2018 TIM‑4 blockade of KCs combined with exogenous TGF‑β injection helps to reverse acute rejection and prolong the survival rate of mice receiving liver allografts. International journal of molecular medicine 22 29620252
2006 Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. American journal of medical genetics. Part A 22 16470743
2006 Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. Proceedings of the National Academy of Sciences of the United States of America 22 16938882
2021 Colchicine Blocks Tubulin Heterodimer Recycling by Tubulin Cofactors TBCA, TBCB, and TBCE. Frontiers in cell and developmental biology 20 33968934
2016 HRD Motif as the Central Hub of the Signaling Network for Activation Loop Autophosphorylation in Abl Kinase. Journal of chemical theory and computation 20 27682200
2003 DNA damage-binding proteins and heterogeneous nuclear ribonucleoprotein A1 function as constitutive KCS element components of the interferon-inducible RNA-dependent protein kinase promoter. The Journal of biological chemistry 20 14645369
2024 Dissecting the Distinct Tumor Microenvironments of HRD and HRP Ovarian Cancer: Implications for Targeted Therapies to Overcome PARPi Resistance in HRD Tumors and Refractoriness in HRP Tumors. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 19 39136172
2022 Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing. NPJ breast cancer 19 35246547
2011 Mutations in the catalytic loop HRD motif alter the activity and function of Drosophila Src64. PloS one 19 22132220
2002 Regulation of the interferon-inducible PKR kinase gene: the KCS element is a constitutive promoter element that functions in concert with the interferon-stimulated response element. Virology 18 12036325
2023 Loss of HRD functional phenotype impedes immunotherapy and can be reversed by HDAC inhibitor in ovarian cancer. International journal of biological sciences 17 37063431
2023 HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With? International journal of molecular sciences 17 37445679
2023 Concordance between Three Homologous Recombination Deficiency (HRD) Assays in Patients with High-Grade Epithelial Ovarian Cancer. Cancers 17 38067228
2020 HRD Complex Self-Remodeling Enables a Novel Route of Membrane Protein Retrotranslocation. iScience 17 32891886
2023 Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer. Cancers 16 36831640
2022 Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can! Cancers 16 36612041
2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review. Journal of pediatric endocrinology & metabolism : JPEM 16 15645691
2003 Presumed hyposecretory/hyperevaporative KCS: tear characteristics. Transactions of the American Ophthalmological Society 16 14971572
2021 GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing. BMC bioinformatics 15 34814825
2023 Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD). Translational oncology 14 37327584
2021 Increasing glycolysis by deletion of kcs1 and arg82 improved S-adenosyl-L-methionine production in Saccharomyces cerevisiae. AMB Express 14 33464427
2022 Identification and Structure Analysis of KCS Family Genes Suggest Their Reponding to Regulate Fiber Development in Long-Staple Cotton Under Salt-Alkaline Stress. Frontiers in genetics 13 35186036
2022 Genome-wide identification and characterization of the KCS gene family in sorghum (Sorghum bicolor (L.) Moench). PeerJ 13 36225907
1995 Tear protein profiles vs. clinical characteristics of untreated and cyclosporine-treated canine KCS. Journal of the American Optometric Association 13 7560726
2024 A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations. Diagnostic pathology 12 38184614
2023 Homologous Recombination Deficiency (HRD) in Cutaneous Oncology. International journal of molecular sciences 12 37445949
2020 Study on the Function of the Inositol Polyphosphate Kinases Kcs1 and Vip1 of Candida albicans in Energy Metabolism. Frontiers in microbiology 12 33362729
2003 Functional analysis of the KCS-like element of the interferon-inducible RNA-specific adenosine deaminase ADAR1 promoter. Gene 12 12568723
2023 HRD related signature 3 predicts clinical outcome in advanced tubo-ovarian high-grade serous carcinoma. Gynecologic oncology 11 38061276
2023 Genome-wide identification and expression analysis of the KCS gene family in soybean (Glycine max) reveal their potential roles in response to abiotic stress. Frontiers in plant science 11 38116151
2023 Genetic suppressor screen identifies Tgp1 (glycerophosphocholine transporter), Kcs1 (IP6 kinase), and Plc1 (phospholipase C) as determinants of inositol pyrophosphate toxicosis in fission yeast. mBio 11 38133430
2022 Concurrent silencing of TBCE and drug delivery to overcome platinum-based resistance in liver cancer. Acta pharmaceutica Sinica. B 11 36970197
2018 Efficacy of Trabodenoson in a Mouse Keratoconjunctivitis Sicca (KCS) Model for Dry-Eye Syndrome. Investigative ophthalmology & visual science 11 30025146
2002 The promoter-proximal KCS element of the PKR kinase gene enhances transcription irrespective of orientation and position relative to the ISRE element and is functionally distinct from the KCS-like element of the ADAR deaminase Promoter. Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 11 12396729
2024 A chromosome level genome assembly of Pseudoroegneria Libanotica reveals a key Kcs gene involves in the cuticular wax elongation for drought resistance. BMC genomics 10 38448864
2013 Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse. Experimental neurology 10 24120439
2023 Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study. Journal of medical genetics 9 36627197
2022 circRNA Expression Pattern and circRNA-miRNA-mRNA Network in HCs, HSCs, and KCs of Murine Liver After Echinococcus multilocularis Infection. Frontiers in veterinary science 9 35400095
2018 Role of the inositol pyrophosphate multikinase Kcs1 in Cryptococcus inositol metabolism. Fungal genetics and biology : FG & B 9 29357302
2015 The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. Annals of Saudi medicine 9 26336027
2024 PGD 2 /DP1 axis promotes liver regeneration by secreting Wnt2 in KCs in mice. Hepatology (Baltimore, Md.) 8 39028901
2023 Homologous recombination deficiency (HRD) testing on cell-free tumor DNA from peritoneal fluid. Molecular cancer 8 37932736
2022 Transcriptional regulation of KCS gene by bZIP29 and MYB70 transcription factors during ABA-stimulated wound suberization of kiwifruit (Actinidia deliciosa). BMC plant biology 8 34998386
2025 RAD51 and PALB2 in precision oncology: Clinical implications for HRD associated breast and ovarian cancers (Review). International journal of oncology 7 40613200
2024 Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2). Molecular genetics & genomic medicine 7 38591167
2023 Efficacy and safety of PARP inhibitors for maintenance treatment of ovarian cancer, regardless of BRCA or HRD status: a comprehensive updated meta-analysis. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 7 36729640
2023 Comparative phylogenomic insights of KCS and ELO gene families in Brassica species indicate their role in seed development and stress responsiveness. Scientific reports 7 36864046

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