Affinage

FBN2

Fibrillin-2 · UniProt P35556

Length
2912 aa
Mass
314.8 kDa
Annotated
2026-06-09
100 papers in source corpus 10 papers cited in narrative 10 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

Fibrillin-2 (FBN2) is a large extracellular matrix glycoprotein that polymerizes into microfibrils and acts as a structural and growth-factor-regulatory scaffold required for normal musculoskeletal, ocular, and craniofacial development (PMID:7493032, PMID:26114882). Beyond its structural role, fibrillin-2 sequesters BMP growth factor complexes—including BMP7—in a latent state within the matrix; loss of fibrillin-2 in mice releases this restraint, producing abnormally activated BMP signaling, reduced muscle mass, and myopathy that is genetically rescued by lowering Bmp7 gene dosage (PMID:26114882). Fibrillin variants are also accompanied by upregulated TGF-beta signaling in scoliosis cases, extending its role as a regulator of matrix-sequestered growth factors (PMID:24833718). Cysteine-substituting missense mutations and splicing errors in FBN2 that disrupt EGF-like domains cause congenital contractural arachnodactyly, with pathogenic mutations clustering tightly in a central domain encoded by exons 23–34 (PMID:7493032, PMID:9106527, PMID:11754102). Fibrillin-2-rich microfibrils localize to the developing pupillary membrane and to Bruch's membrane, where fibrillin-2 is required for optic fissure closure, anterior segment morphogenesis, and retinal homeostasis, and FBN2 variants are associated with maculopathy (PMID:24130178, PMID:24899048). Haploinsufficiency for FBN2 also contributes to a syndromic form of Pierre Robin sequence with digital contractures and crumpled ear helices (PMID:25195018).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1995 High

    Establishing that FBN2 mutations cause a heritable connective tissue disorder defined fibrillin-2 as a structural microfibril component required for musculoskeletal development.

    Evidence Direct sequencing identifying cysteine-substituting missense mutations in EGF-like domains in congenital contractural arachnodactyly patients

    PMID:7493032

    Open questions at the time
    • Did not define how individual mutations disrupt microfibril assembly at the molecular level
    • Did not address fibrillin-2 function outside the musculoskeletal system
  2. 1997 Medium

    Splicing-error mutations deleting a calcium-binding EGF-like domain extended the mutational spectrum and revealed allele-specific expression differences in patient fibroblasts.

    Evidence RT-PCR and genomic sequencing of FBN2 transcripts from CCA patient dermal fibroblasts

    PMID:9106527

    Open questions at the time
    • Functional consequence of the allele-specific expression imbalance not established
    • No protein-level assay of the mutant fibrillin-2
  3. 1998 Medium

    Mapping CCA mutations to a limited central region clarified that one specific domain block is critical for fibrillin-2 function in embryogenesis.

    Evidence FBN2 mRNA screening and mutation mapping across multiple unrelated CCA patient cell strains

    PMID:9714438

    Open questions at the time
    • Why this central region is uniquely mutation-sensitive was not mechanistically resolved
    • Did not test domain function biochemically
  4. 2002 Medium

    Systematic screening confirmed mutation clustering in exons 23–34 and distinguished FBN2 pathomechanism from FBN1 by showing mutations spare calcium-binding consensus sequences.

    Evidence SSCP and direct sequencing of exons 22–36 in 13 CCA patients with clinical correlation

    PMID:11754102

    Open questions at the time
    • The distinct pathomechanism implied by sparing of calcium-binding sequences not directly demonstrated
    • No structural model of mutant microfibrils
  5. 2005 Medium

    Discovery of promoter methylation silencing of FBN2 implicated the gene as a methylation target in cancer, beyond its developmental role.

    Evidence Methylation-specific PCR and RT-PCR with pharmacological demethylation (5-aza-2'-deoxycytidine) in NSCLC cell lines

    PMID:15951052

    Open questions at the time
    • Functional consequence of FBN2 loss for tumor biology not established
    • No in vivo confirmation
  6. 2013 Medium

    Knockout phenotyping revealed a previously unknown ocular developmental role, placing fibrillin-2 microfibrils in optic fissure closure and pupillary membrane regression.

    Evidence Confocal immunolocalization and phenotypic characterization of Fbn2-null mouse eyes

    PMID:24130178

    Open questions at the time
    • Molecular signaling pathway linking fibrillin-2 loss to coloboma not defined
    • Single-lab knockout characterization
  7. 2014 Medium

    Localization to Bruch's membrane combined with genetic association linked fibrillin-2 to retinal homeostasis and maculopathy.

    Evidence Exome sequencing in a maculopathy family, immunolocalization to Bruch's membrane, and a large case-control association study

    PMID:24899048

    Open questions at the time
    • Causal mechanism by which FBN2 variants impair blood-retina homeostasis not demonstrated
    • Common-variant association is statistical, not mechanistic
  8. 2014 Medium

    Rare-variant burden testing implicated FBN2 in scoliosis and connected fibrillin variants to TGF-beta pathway dysregulation.

    Evidence Exome sequencing and burden analysis in 852 AIS cases vs 669 controls with replication and pathway analysis

    PMID:24833718

    Open questions at the time
    • TGF-beta upregulation is observational, not a direct mechanistic demonstration of fibrillin-2 control
    • Individual variant causality not established
  9. 2014 Medium

    Deletion mapping attributed specific digital and auricular features of a Pierre Robin syndrome to FBN2 haploinsufficiency, distinguishing dosage from missense pathology.

    Evidence Array CGH minimal-region mapping with embryonic mouse expression analysis of orthologous genes

    PMID:25195018

    Open questions at the time
    • Direct functional proof of haploinsufficiency for these features not provided
    • Contribution of co-deleted genes not fully excluded
  10. 2015 High

    Genetic epistasis defined the core mechanism: fibrillin-2 sequesters latent BMP complexes, so its loss derepresses BMP signaling and causes myopathy.

    Evidence Fbn2-null mouse analysis with BMP signaling assays and Bmp7-heterozygous genetic rescue restoring muscle mass

    PMID:26114882

    Open questions at the time
    • Direct binding interface between fibrillin-2 microfibrils and BMP7 complexes not structurally mapped
    • Whether the same mechanism operates in human CCA muscle not shown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How specific exon 23–34 mutations and structural disruption of microfibrils mechanistically translate into impaired BMP/TGF-beta sequestration across muscle, eye, and skeleton remains unresolved.
  • No structural model linking mutant fibrillin-2 to growth-factor release
  • Tissue-specific contributions of BMP vs TGF-beta dysregulation not disentangled
  • Human disease mechanism not directly tied to the mouse BMP-sequestration model

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0140313 molecular sequestering activity 1
Localization
GO:0031012 extracellular matrix 3 GO:0005576 extracellular region 2
Pathway
R-HSA-1266738 Developmental Biology 2 R-HSA-1474244 Extracellular matrix organization 2 R-HSA-162582 Signal Transduction 2
Partners
BMP7
Complex memberships
microfibril

Evidence

Reading pass · 10 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 Missense mutations in FBN2 causing substitution of cysteine residues in EGF-like domains are responsible for congenital contractural arachnodactyly (CCA), establishing fibrillin-2 as a structural component of extracellular matrix microfibrils whose integrity is required for normal musculoskeletal development. Mutation identification by direct sequencing in CCA patients; demonstration that FBN2 mutations cause CCA phenotype Nature genetics High 7493032
1997 FBN2 mutations causing exon splicing errors (resulting in deletion of a calcium-binding EGF-like domain) lead to CCA. Analysis of FBN2 transcript levels in dermal fibroblasts showed the mutated allele is expressed at higher levels than the wild-type allele, indicating allele-specific expression differences. RT-PCR analysis of FBN2 cDNA from dermal fibroblasts; genomic sequencing; transcript level analysis American journal of human genetics Medium 9106527
1998 All identified FBN2 mutations in CCA patients cluster in a limited region encoded by exons 24–34, corresponding to the region in FBN1 where neonatal Marfan syndrome mutations cluster, indicating this central domain plays a critical role in human embryogenesis. FBN2 mRNA screening from patient cell strains; mutation identification and mapping American journal of medical genetics Medium 9714438
2002 Ten novel FBN2 mutations in CCA patients cluster in exons 23–34 with a 75% detection rate in this limited region. Unlike FBN1 mutations in Marfan syndrome, identified FBN2 mutations do not alter calcium-binding consensus sequences in EGF-like domains, suggesting distinct pathomechanisms for the two fibrillins. SSCP analysis and direct sequencing of exons 22–36 of FBN2 in 13 CCA patients; clinical correlation Human mutation Medium 11754102
2005 FBN2 expression is silenced by aberrant promoter methylation in non-small cell lung cancer (NSCLC) cell lines; treatment with the demethylating agent 5-aza-2'-deoxycytidine restored FBN2 expression, establishing promoter methylation as a mechanism of FBN2 silencing in cancer. RT-PCR for expression analysis; methylation-specific PCR; 5-aza-2'-deoxycytidine demethylation treatment Lung cancer (Amsterdam, Netherlands) Medium 15951052
2013 Fbn2-null mice exhibit anterior segment dysgenesis including high incidence of iris coloboma and zonular fiber disorganization; fibrillin-2-rich microfibrils are prominent in the pupillary membrane during development, and loss of Fbn2 causes failed pupillary membrane regression, implicating fibrillin-2 in optic fissure closure and lens fiber cell differentiation. Confocal microscopy with antibodies against microfibril components in Fbn2(-/-) mice; phenotypic characterization of knockout ocular morphology Investigative ophthalmology & visual science Medium 24130178
2014 FBN2 localizes to Bruch's membrane in the eye; its expression is reduced in aging and AMD eyes. Rare FBN2 variants segregate with autosomal dominant maculopathy, and a common non-synonymous variant (rs154001, p.Val965Ile) is associated with AMD, establishing FBN2 as a component of Bruch's membrane important for blood-retina homeostasis. Whole exome sequencing in maculopathy family; Sanger sequencing validation; immunolocalization to Bruch's membrane; large-scale association study (10,337 cases/11,174 controls) Human molecular genetics Medium 24899048
2015 Fbn2 null mice are born with reduced muscle mass, abnormal muscle histology, and activated BMP signaling in skeletal muscle. Genetic rescue by deleting a single allele of Bmp7 restored muscle mass and reduced white fat accumulation, demonstrating that fibrillin-2 sequesters BMP complexes (including BMP7) in a latent state in the extracellular matrix and that loss of fibrillin-2 causes abnormally activated BMP signaling leading to myopathy. Fbn2 null mouse analysis; creatine kinase measurement; in vivo and in vitro BMP signaling assays; genetic epistasis (Fbn2 null × Bmp7 heterozygous rescue); histology and immunofluorescence PLoS genetics High 26114882
2014 Rare variants in FBN2 (and FBN1) are enriched in severely affected adolescent idiopathic scoliosis (AIS) cases compared to controls, with upregulation of the TGF-beta pathway observed in cases with fibrillin variants, expanding the functional role of FBN2 to include regulation of TGF-beta signaling in spinal development. Exome sequencing; burden analysis in 852 AIS cases and 669 controls; replication in independent Han Chinese cohort; clinical evaluation with pathway analysis Human molecular genetics Medium 24833718
2014 5q23 deletions encompassing FBN2 (and PHAX) cause a syndromic form of Pierre Robin sequence with associated digital contractures and crumpled ear helices; haploinsufficiency for FBN2 accounts specifically for the digital and auricular features of this syndrome. Clinical array-based comparative genome hybridization (aCGH) defining minimum deletion region; expression analysis of orthologous genes in embryonic mice; sequencing of candidate genes European journal of medical genetics Medium 25195018

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 cHCC-CCA: Consensus terminology for primary liver carcinomas with both hepatocytic and cholangiocytic differentation. Hepatology (Baltimore, Md.) 274 29360137
1995 Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature genetics 221 7493032
1996 CCA-adding enzymes and poly(A) polymerases are all members of the same nucleotidyltransferase superfamily: characterization of the CCA-adding enzyme from the archaeal hyperthermophile Sulfolobus shibatae. RNA (New York, N.Y.) 166 8809016
2004 Mechanism of transfer RNA maturation by CCA-adding enzyme without using an oligonucleotide template. Nature 111 15295590
1998 CCA addition by tRNA nucleotidyltransferase: polymerization without translocation? The EMBO journal 109 9606201
2002 Crystal structures of the Bacillus stearothermophilus CCA-adding enzyme and its complexes with ATP or CTP. Cell 107 12526808
2002 Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Human mutation 101 11754102
2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Human molecular genetics 98 24833718
2009 UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Human mutation 77 19370756
2005 A story with a good ending: tRNA 3'-end maturation by CCA-adding enzymes. Current opinion in structural biology 71 16364630
1998 The CCA-adding enzyme has a single active site. The Journal of biological chemistry 70 9792681
2021 WDR5 facilitates EMT and metastasis of CCA by increasing HIF-1α accumulation in Myc-dependent and independent pathways. Molecular therapy : the journal of the American Society of Gene Therapy 68 33601056
2001 Collaboration between CC- and A-adding enzymes to build and repair the 3'-terminal CCA of tRNA in Aquifex aeolicus. Science (New York, N.Y.) 67 11701927
2010 CCA addition to tRNA: implications for tRNA quality control. IUBMB life 65 20101632
2006 Complete crystallographic analysis of the dynamics of CCA sequence addition. Nature 65 17051158
2015 On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme. Cell 64 25640237
2003 Crystal structures of an archaeal class I CCA-adding enzyme and its nucleotide complexes. Molecular cell 61 14636575
1998 A top-half tDNA minihelix is a good substrate for the eubacterial CCA-adding enzyme. RNA (New York, N.Y.) 61 9510330
2005 The C. elegans T-type calcium channel CCA-1 boosts neuromuscular transmission. The Journal of experimental biology 57 15914662
1997 Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. American journal of human genetics 56 9106527
2004 A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition. Journal of molecular biology 55 15019775
2017 miRNA and lncRNA as biomarkers in cholangiocarcinoma(CCA). Oncotarget 52 29246025
2014 Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human molecular genetics 52 24899048
1998 Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. American journal of medical genetics 52 9714438
2009 The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Human mutation 49 18767143
2009 Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. Oncology reports 49 19288010
2015 Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice. PLoS genetics 48 26114882
2009 Mechanism for the definition of elongation and termination by the class II CCA-adding enzyme. The EMBO journal 48 19745807
2004 Children's exposure to arsenic from CCA-treated wooden decks and playground structures. Risk analysis : an official publication of the Society for Risk Analysis 48 15028000
2003 Divergent evolutions of trinucleotide polymerization revealed by an archaeal CCA-adding enzyme structure. The EMBO journal 48 14592988
2002 Closely related CC- and A-adding enzymes collaborate to construct and repair the 3'-terminal CCA of tRNA in Synechocystis sp. and Deinococcus radiodurans. The Journal of biological chemistry 46 12370185
2013 An RNA-binding complex involved in ribosome biogenesis contains a protein with homology to tRNA CCA-adding enzyme. PLoS biology 44 24130456
2008 A comparative analysis of CCA-adding enzymes from human and E. coli: differences in CCA addition and tRNA 3'-end repair. Biochimie 44 18226598
2023 Imaging in metastatic breast cancer, CT, PET/CT, MRI, WB-DWI, CCA: review and new perspectives. Cancer imaging : the official publication of the International Cancer Imaging Society 43 37254225
2006 The precursor tRNA 3'-CCA interaction with Escherichia coli RNase P RNA is essential for catalysis by RNase P in vivo. RNA (New York, N.Y.) 43 17135488
2005 Aberrant methylation of FBN2 in human non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 43 15951052
2004 Exchange of regions between bacterial poly(A) polymerase and the CCA-adding enzyme generates altered specificities. Molecular cell 43 15304219
1998 The Bacillus subtilis nucleotidyltransferase is a tRNA CCA-adding enzyme. Journal of bacteriology 40 9829937
1998 Participation of the 3'-CCA of tRNA in the binding of catalytic Mg2+ ions by ribonuclease P. Biochemistry 39 9585541
2018 A tRNA's fate is decided at its 3' end: Collaborative actions of CCA-adding enzyme and RNases involved in tRNA processing and degradation. Biochimica et biophysica acta. Gene regulatory mechanisms 37 29374586
2009 Membrane-less cloth cathode assembly (CCA) for scalable microbial fuel cells. Biosensors & bioelectronics 37 19556120
1986 Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase. The Journal of biological chemistry 37 3009457
2015 Carcinogenic risk of chromium, copper and arsenic in CCA-treated wood. Environmental pollution (Barking, Essex : 1987) 36 26275730
2008 tRNA integrity is a prerequisite for rapid CCA addition: implication for quality control. Journal of molecular biology 35 18466919
2000 Unusual synthesis by the Escherichia coli CCA-adding enzyme. RNA (New York, N.Y.) 35 10917598
2015 The CCA-adding enzyme: A central scrutinizer in tRNA quality control. BioEssays : news and reviews in molecular, cellular and developmental biology 34 26172425
1997 De novo and DNA primer-mediated initiation of cDNA synthesis by the mauriceville retroplasmid reverse transcriptase involve recognition of a 3' CCA sequence. Journal of molecular biology 34 9268661
2003 Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. Journal of human genetics 33 12750963
2000 CCA initiation boxes without unique promoter elements support in vitro transcription by three viral RNA-dependent RNA polymerases. RNA (New York, N.Y.) 33 10836791
2022 The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human mutation 32 35419902
2010 Phase-II trial of combination treatment of interferon-α, cimetidine, cyclooxygenase-2 inhibitor and renin-angiotensin-system inhibitor (I-CCA therapy) for advanced renal cell carcinoma. Cancer science 32 20973869
2021 RelA-SpoT Homolog toxins pyrophosphorylate the CCA end of tRNA to inhibit protein synthesis. Molecular cell 31 34174184
2015 Fine genetic mapping of target leaf spot resistance gene cca-3 in cucumber, Cucumis sativus L. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 31 26385372
2013 Ocular phenotype of Fbn2-null mice. Investigative ophthalmology & visual science 31 24130178
1989 Metastatic ability and differentiative properties of a new cell line of human embryonal rhabdomyosarcoma (CCA). Anticancer research 30 2516717
2019 LOTTE-seq (Long hairpin oligonucleotide based tRNA high-throughput sequencing): specific selection of tRNAs with 3'-CCA end for high-throughput sequencing. RNA biology 29 31486704
2014 ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries. International journal of sports medicine 29 25429546
2006 Reengineering CCA-adding enzymes to function as (U,G)- or dCdCdA-adding enzymes or poly(C,A) and poly(U,G) polymerases. Proceedings of the National Academy of Sciences of the United States of America 29 17179213
2002 Poly(C) synthesis by class I and class II CCA-adding enzymes. Biochemistry 29 11926813
2016 Developing multi-cellular tumor spheroid model (MCTS) in the chitosan/collagen/alginate (CCA) fibrous scaffold for anticancer drug screening. Materials science & engineering. C, Materials for biological applications 28 26952417
2010 How the CCA-adding enzyme selects adenine over cytosine at position 76 of tRNA. Science (New York, N.Y.) 28 21071662
2003 Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation. The Journal of biological chemistry 28 12621050
2011 The vitamin D receptor gene bAt (CCA) haplotype impairs the response to pegylated-interferon/ribavirin-based therapy in chronic hepatitis C patients. Antiviral therapy 27 22300961
2008 Role of the CCA bulge of prohead RNA of bacteriophage ø29 in DNA packaging. Journal of molecular biology 27 18778713
2022 Selective Cleavage at CCA Ends and Anticodon Loops of tRNAs by Stress-Induced RNases. Frontiers in molecular biosciences 26 35300117
2014 Decreased tobacco-specific nitrosamines by microbial treatment with Bacillus amyloliquefaciens DA9 during the air-curing process of burley tobacco. Journal of agricultural and food chemistry 26 25514373
2012 FBN2 methylation is detected in the serum of colorectal cancer patients with hepatic metastasis. Anticancer research 26 23060561
2005 Repair of the tRNA-like CCA sequence in a multipartite positive-strand RNA virus. Journal of virology 25 15650168
2001 U2 small nuclear RNA is a substrate for the CCA-adding enzyme (tRNA nucleotidyltransferase). The Journal of biological chemistry 25 11700323
1999 Substrate binding and catalysis by ribonuclease P from cyanobacteria and Escherichia coli are affected differently by the 3' terminal CCA in tRNA precursors. Proceedings of the National Academy of Sciences of the United States of America 25 10359770
2020 Diseases Associated with Defects in tRNA CCA Addition. International journal of molecular sciences 24 32471101
2008 Molecular basis for maintenance of fidelity during the CCA-adding reaction by a CCA-adding enzyme. The EMBO journal 24 18583961
2024 The scaffold of neutrophil extracellular traps promotes CCA progression and modulates angiogenesis via ITGAV/NFκB. Cell communication and signaling : CCS 23 38326837
2008 A comparative analysis of two conserved motifs in bacterial poly(A) polymerase and CCA-adding enzyme. Nucleic acids research 22 18682528
2007 Hfq stimulates the activity of the CCA-adding enzyme. BMC molecular biology 22 17949481
1987 An immunomodulating anti-rheumatic drug, lobenzarit disodium (CCA): inhibition of polyclonal B-cell activation and prevention of autoimmune disease in MRL/Mp-lpr/lpr mice. Clinical immunology and immunopathology 22 3500002
2008 Peptidyl-CCA deacylation on the ribosome promoted by induced fit and the O3'-hydroxyl group of A76 of the unacylated A-site tRNA. RNA (New York, N.Y.) 21 18818369
2004 Archaeal CCA-adding enzymes: central role of a highly conserved beta-turn motif in RNA polymerization without translocation. The Journal of biological chemistry 21 15590678
1995 DNA methylation in mycobacteria: absence of methylation at GATC (Dam) and CCA/TGG (Dcm) sequences. FEMS immunology and medical microbiology 21 8541807
2022 Crenigacestat blocking notch pathway reduces liver fibrosis in the surrounding ecosystem of intrahepatic CCA viaTGF-β inhibition. Journal of experimental & clinical cancer research : CR 20 36443822
2016 Evaluation of the CCA Immuno-Chromatographic Test to Diagnose Schistosoma mansoni in Minas Gerais State, Brazil. PLoS neglected tropical diseases 20 26752073
2015 The identity of the discriminator base has an impact on CCA addition. Nucleic acids research 20 25958396
2014 A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. European journal of medical genetics 20 25195018
2000 Sulfolobus shibatae CCA-adding enzyme forms a tetramer upon binding two tRNA molecules: A scrunching-shuttling model of CCA specificity. Journal of molecular biology 20 11090289
2022 Diagnosis of Schistosomiasis without a Microscope: Evaluating Circulating Antigen (CCA, CAA) and DNA Detection Methods on Banked Samples of a Community-Based Survey from DR Congo. Tropical medicine and infectious disease 19 36288056
2017 Examining tRNA 3'-ends in Escherichia coli: teamwork between CCA-adding enzyme, RNase T, and RNase R. RNA (New York, N.Y.) 19 29180590
2012 Lys53 of ribosomal protein L36AL and the CCA end of a tRNA at the P/E hybrid site are in close proximity on the human ribosome. Chembiochem : a European journal of chemical biology 19 22865768
1991 Peculiarities of recognition of CCA/TGG sequences in DNA by restriction endonucleases MvaI and EcoRII. Journal of molecular recognition : JMR 19 1665978
2016 Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. Orphanet journal of rare diseases 17 27317422
2016 Identification of transcription factors (TFs) and targets involved in the cholangiocarcinoma (CCA) by integrated analysis. Cancer gene therapy 17 27857060
2006 A model for C74 addition by CCA-adding enzymes: C74 addition, like C75 and A76 addition, does not involve tRNA translocation. The Journal of biological chemistry 17 16455665
1995 Chromosome condensation activity (CCA) in bisected C57BL/6JxCBA mouse oocytes. Reproduction, fertility, and development 17 8848580
2009 Distinct kinetic determinants for the stepwise CCA addition to tRNA. RNA (New York, N.Y.) 16 19696158
1994 Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. Mammalian genome : official journal of the International Mammalian Genome Society 16 7873879
2022 Incorporating oral, inhalation and dermal bioaccessibility into human health risk characterization following exposure to Chromated Copper Arsenate (CCA)-contaminated soils. Ecotoxicology and environmental safety 15 38321665
2020 Diagnostic comparison of stool exam and point-of-care circulating cathodic antigen (POC-CCA) test for schistosomiasis mansoni diagnosis in a high endemicity area in northeastern Brazil. Parasitology 15 33190646
2017 Preparation and evaluation of pH-responsive charge-convertible ternary complex FA-PEI-CCA/PEI/DNA with low cytotoxicity and efficient gene delivery. Colloids and surfaces. B, Biointerfaces 15 28086103
2005 Metal-ion-dependent catalysis and specificity of CCA-adding enzymes: a comparison of two classes. Biochemistry 15 16171400
2023 Revealing the role of necroptosis microenvironment: FCGBP + tumor-associated macrophages drive primary liver cancer differentiation towards cHCC-CCA or iCCA. Apoptosis : an international journal on programmed cell death 14 38017206
2013 How a CCA sequence protects mature tRNAs and tRNA precursors from action of the processing enzyme RNase BN/RNase Z. The Journal of biological chemistry 14 24022488

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