Affinage

LBR

Delta(14)-sterol reductase LBR · UniProt Q14739

Length
615 aa
Mass
70.7 kDa
Annotated
2026-06-10
47 papers in source corpus 19 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

LBR is an integral protein of the inner nuclear membrane (INM) that serves as a principal tether linking peripheral heterochromatin to the nuclear envelope and, through its membrane-embedded domain, contributes to sterol biosynthesis (PMID:8157662, PMID:9003786, PMID:31911440). Its nucleoplasmic amino-terminal domain directly binds lamin B and binds double-stranded DNA in a sequence-independent manner, with a Ser-Arg-rich stretch (aa 71–100) required for DNA binding (PMID:8157662); biochemically this domain engages linker DNA but not the nucleosome core with high affinity (Kd ~4 nM) and contacts HP1 indirectly through a histone H3/H4-bridged quaternary complex that is disrupted by histone hyperacetylation (PMID:11571267, PMID:10828963). Through these contacts LBR is the principal chromatin anchorage site at the reconstituted nuclear envelope, where its depletion abolishes chromosome binding (PMID:9003786). In differentiating and pluripotent cells LBR acts together with lamin A/C and LAP2 as sequential, mechanistically distinct heterochromatin tethers; loss of LBR (especially combined with LAP2 or lamins) detaches heterochromatin from the periphery, reduces H3K27me3 and H3K9me2 repression, deregulates genes, and impairs cell fate transitions (PMID:23374351, PMID:41735607). LBR is anchored at the INM by B-type lamins and is displaced to the ER by lamin A through phosphorylation (PMID:42153377), with its INM residence further governed by ELYS/PP1-balanced phosphorylation and by ER factors such as cTAGE5 (PMID:27802161, PMID:40739853). The carboxyl domain carries constitutively active Δ-14 sterol C14-reductase activity essential for cholesterol synthesis (PMID:31911440), and LBR stability is controlled by SRPK1-mediated RS-domain phosphorylation and GSK3β/FBW7-mediated proteasomal degradation (PMID:10049757, PMID:40355051). During apoptosis the nucleoplasmic domain is cleaved as a late execution event subsequent to lamin B cleavage (PMID:9570761).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1994 High

    Establishing LBR's domain architecture and its direct binding to lamin B and DNA defined how an INM protein could physically couple the nuclear lamina to chromatin.

    Evidence Recombinant fusion protein pulldown from nuclear extracts, nitrocellulose DNA-binding assay, and deletion mapping; corroborated by heterologous co-expression with lamin B in yeast

    PMID:7937849 PMID:8157662

    Open questions at the time
    • Did not resolve the structural basis of lamin B recognition
    • DNA binding was sequence-independent, leaving genomic targeting unexplained
  2. 1996 High

    Demonstrating that LBR is the principal chromatin anchorage site at the NE established its functional, not merely correlative, role in tethering chromosomes.

    Evidence In vitro NE vesicle reconstitution with immunodepletion and direct chromatin binding by purified LBR

    PMID:9003786

    Open questions at the time
    • Did not identify the chromatin features (histone marks vs DNA) recognized in vivo
    • Performed in reconstituted vesicles rather than intact nuclei
  3. 2001 High

    Resolving the LBR–HP1 connection as an indirect, histone H3/H4-bridged quaternary complex sensitive to acetylation linked LBR tethering to chromatin modification state.

    Evidence In vitro binding with purified components plus recombinant CBP-mediated histone acetylation; HP1 chromo shadow domain mapping by two-hybrid and GST pulldown

    PMID:11571267 PMID:9169472

    Open questions at the time
    • Did not establish stoichiometry of the quaternary complex in vivo
    • Did not test which HP1 isoform predominates at the INM
  4. 2000 High

    Quantifying high-affinity (Kd ~4 nM) LBR binding to linker DNA but not nucleosome cores defined the molecular preference underlying its chromatin contact.

    Evidence In vitro titration and competition with recombinant GST-LBR-NT and reconstituted nucleosomes/DNA

    PMID:10828963

    Open questions at the time
    • Sequence-independence leaves the basis of genomic locus selectivity unexplained
    • Did not address competition with lamin B or HP1 for the same domain
  5. 1998 Medium

    Mapping LBR cleavage as a late apoptotic event ordered nuclear envelope disassembly relative to lamin B cleavage.

    Evidence Immunoblotting of apoptotic lysates with temporal comparison to lamin B and phosphorylation analysis

    PMID:9570761

    Open questions at the time
    • Did not identify the responsible protease
    • Functional consequence of the soluble ~20 kDa fragment unknown
  6. 1999 Medium

    Identifying SRPK1 as the kinase phosphorylating LBR's RS repeats at in vivo sites established a defined regulatory input to LBR.

    Evidence In vitro kinase assay with synthetic LBR peptides and recombinant SRPK1, with in vivo phosphosite mapping

    PMID:10049757

    Open questions at the time
    • Did not establish how RS-domain phosphorylation alters LBR binding or localization
    • Single lab, in vitro substrate
  7. 2000 Medium

    Live imaging of LBR-GFP recruitment to chromosomes within ~5 min of anaphase, before nuclear import recovery, positioned LBR early in NE reassembly.

    Evidence Time-lapse fluorescence imaging of LBR-GFP in HeLa cells correlated with import function

    PMID:10671368

    Open questions at the time
    • Did not define the targeting signal driving early recruitment
    • Single cell type
  8. 2013 High

    Genetic dissection in mice revealed LBR and lamin A/C as sequential, mechanistically distinct heterochromatin tethers acting at different differentiation stages.

    Evidence Lbr and Lmna single/double mutant mice with immunofluorescence and myoblast transcriptomics

    PMID:23374351

    Open questions at the time
    • Did not resolve why the two tethers have opposite effects on muscle gene expression
    • Molecular trigger for the LBR-to-lamin-A switch unknown
  9. 2016 Medium

    Showing that ELYS and PP1 counterbalance LBR phosphorylation at CDK/SRPK1/2 sites linked LBR INM retention to a phosphorylation/dephosphorylation switch.

    Evidence siRNA depletion of ELYS and PP1 with phosphorylation immunoblots and LBR localization imaging

    PMID:27802161

    Open questions at the time
    • Did not establish whether ELYS acts directly or via altered kinase access
    • Single lab
  10. 2017 Medium

    FRAP analysis demonstrated regionally variable LBR mobility and discrete microdomains dependent on TM-loop/N-terminal long-range interactions, revealing intramolecular control of dynamics.

    Evidence FRAP of LBR-GFP truncation variants with structure–function analysis

    PMID:28118363

    Open questions at the time
    • Did not define the molecular partners constraining microdomain mobility
    • Microdomain function not established
  11. 2020 Medium

    Assigning constitutively active Δ-14 sterol C14-reductase activity to LBR, contrasting its stability with the rapidly degraded paralog DHCR14, defined its enzymatic role in cholesterol synthesis.

    Evidence Epitope-tagged stable expression in CHO-7 cells with sterol loading, proteasome inhibition, and reductase activity assay

    PMID:31911440

    Open questions at the time
    • Did not connect catalytic activity to heterochromatin-tethering function
    • Single lab
  12. 2025 Medium

    Defining GSK3β/FBW7-mediated proteasomal degradation of LBR, enhanced by the disease C337W mutation and antagonized by WNT3A, linked LBR turnover to Wnt signaling and cholesterol synthesis.

    Evidence Co-IP of LBR–FBW7, proteasome inhibitor and cholesterol-rescue assays, and osteogenic differentiation in MC3T3-E1 cells

    PMID:40355051

    Open questions at the time
    • Single Co-IP-based interaction without structural detail
    • Disease causality of C337W not formally established in this entry
  13. 2025 Medium

    Identifying cTAGE5/MEA6 as an ER-associated LBR interactor whose loss destabilizes LBR and triggers P53/P21 senescence connected ER trafficking to LBR INM residence and aging phenotypes.

    Evidence Co-IP, conditional cTAGE5 knockout in mice/MEFs, LBR localization imaging, and senescence assays

    PMID:40739853

    Open questions at the time
    • Mechanism of cTAGE5-dependent LBR delivery to the INM unresolved
    • Single lab
  14. 2026 High

    Reconstitution in triple-lamin-knockout MEFs established that B-type lamins anchor LBR while lamin A displaces it via phosphorylation, defining isoform-specific control of LBR localization.

    Evidence Triple lamin KO MEFs reconstituted with individual lamin isoforms, FRAP, immunofluorescence, and phosphorylation analysis

    PMID:42153377

    Open questions at the time
    • Did not identify the kinase mediating lamin-A-induced LBR phosphorylation
    • Functional consequence of LBR displacement for heterochromatin not assessed here
  15. 2026 High

    Co-depletion of LBR and LAP2 across differentiated and pluripotent cells established their combined necessity for peripheral heterochromatin positioning and proper cell fate, with detachment activating antiviral innate immunity.

    Evidence siRNA/shRNA co-depletion with Hi-C, H3K27me3 ChIP-seq, RNA-seq, and differentiation assays

    PMID:41735607

    Open questions at the time
    • Did not separate direct tethering from downstream transcriptional effects
    • Mechanism coupling detachment to innate immune activation unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how LBR's two functions — heterochromatin tethering and sterol C14-reductase catalysis — are coordinated, and which kinases and recruitment mechanisms direct LBR to specific genomic loci.
  • No structure of full-length LBR with chromatin
  • Kinase responsible for lamin-A-induced displacement unidentified
  • Basis of genomic locus selectivity unknown given sequence-independent DNA binding

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0003677 DNA binding 2 GO:0016491 oxidoreductase activity 1 GO:0042393 histone binding 1
Localization
GO:0000228 nuclear chromosome 3 GO:0005635 nuclear envelope 3 GO:0005783 endoplasmic reticulum 2
Pathway
R-HSA-1266738 Developmental Biology 2 R-HSA-4839726 Chromatin organization 2 R-HSA-1430728 Metabolism 1
Partners
AHCTF1CBX5FBXW7LMNALMNB1LMNB2TMEM168TMP21
Complex memberships
LBR–lamin B–histone H3/H4–HP1 heterochromatin tether

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1994 Human LBR is an integral inner nuclear membrane protein with a nucleoplasmic amino-terminal domain (208 aa) followed by eight putative transmembrane segments. The amino-terminal domain directly binds lamin B (precipitated from nuclear extracts) and binds double-stranded DNA in a sequence-independent manner; the stretch between amino acids 71–100 (Ser-Arg-rich) is necessary for DNA binding. Recombinant fusion protein pulldown from nuclear extracts; nitrocellulose DNA-binding assay; deletion mapping The Journal of biological chemistry High 8157662
1997 HP1-type chromodomain proteins interact with LBR via their chromo shadow domain (not the chromodomain). The interaction maps to a portion of the second globular domain of LBR's nucleoplasmic region. HP1–LBR binding is detectable both in vitro and in the yeast two-hybrid assay. Yeast two-hybrid assay; in vitro binding (GST pulldown); domain deletion mapping The Journal of biological chemistry High 9169472
1996 LBR is the principal chromatin anchorage site at the nuclear envelope. Immunodepletion or chemical extraction of LBR from in vitro reconstituted nuclear envelope vesicles abolishes chromosome binding, and purified LBR binds directly to chromatin fragments and decorates chromosome surfaces. In vitro NE vesicle reconstitution; immunodepletion; direct chromatin binding assay with purified LBR The EMBO journal High 9003786
1994 When human lamin B and chicken LBR are co-expressed in yeast, LBR integrates into membranes (resistant to 8 M urea extraction) and induces formation of membrane stacks. Lamin B co-localizes with LBR in these stacks and in the yeast nuclear envelope, consistent with direct protein–protein interaction in vivo. Heterologous expression in S. cerevisiae; immunofluorescence; immunoelectron microscopy; cell fractionation; urea extraction Proceedings of the National Academy of Sciences of the United States of America High 7937849
2001 HP1 forms a quaternary complex with LBR and histone H3/H4 at the inner nuclear membrane. H3/H4 oligomers mediate the bridge between LBR and HP1 (LBR and HP1 do not interact directly). Hyperacetylation of H3/H4 by recombinant CBP strongly inhibits HP1 and LBR binding to core histones. In vitro binding assay with purified components; recombinant CBP acetylation EMBO reports High 11571267
2000 The LBR amino-terminal domain binds linker DNA but not the nucleosome core particle. Binding is saturable, high-affinity (Kd ~4 nM), sequence-independent, and enhanced by DNA curvature and supercoiling. In vitro binding assay with recombinant GST-LBR-NT and reconstituted nucleosomes/DNA fragments; titration and competition studies Biochemistry High 10828963
2000 During nuclear envelope reassembly in telophase, LBR-GFP is recruited to reforming nuclear membranes around chromosomes within ~5 minutes after anaphase onset, prior to recovery of nuclear import activity (~8 min). LBR and emerin initially accumulate at distinct chromosome locations before becoming uniformly distributed. Live fluorescence imaging of LBR-GFP in HeLa cells; time-lapse microscopy correlated with nuclear import function Journal of cell science Medium 10671368
1998 The amino-terminal nucleoplasmic domain of LBR is specifically cleaved during apoptosis generating an ~20 kDa soluble fragment. LBR cleavage occurs as a late apoptotic event subsequent to lamin B cleavage, and LBR phosphorylation during apoptosis resembles interphase phosphorylation rather than mitotic phosphorylation. Immunoblotting of apoptotic cell lysates; comparison of cleavage timing with lamin B; phosphorylation analysis Journal of cell science Medium 9570761
1999 SRPK1 phosphorylates LBR on the same RS-repeat residues and with similar kinetics as the previously purified LBR-associated kinase from turkey erythrocyte nuclear envelopes, and these sites correspond to in vivo phosphorylation sites. In vitro kinase assay with synthetic LBR peptides and recombinant SRPK1; comparison to LBR-associated kinase; in vivo phosphorylation mapping Biochemical and biophysical research communications Medium 10049757
2013 LBR and lamin A/C provide sequential, mechanistically distinct heterochromatin tethers to the nuclear envelope during differentiation. Loss of LBR causes loss of peripheral heterochromatin in early differentiation stages, whereas lamin A/C loss affects later stages. Loss of both leads to full heterochromatin inversion (relocalization to nuclear interior). LBR-dependent and lamin-A-dependent tethers have opposite effects on muscle gene expression. Genetic mouse models (Lbr and Lmna single and double mutants); immunofluorescence; transcriptome analysis of myoblasts Cell High 23374351
2016 Depletion of ELYS (a nuclear pore complex component) promotes LBR phosphorylation at CDK and SRPK1/2 sites, causing LBR mislocalization from the INM. Protein phosphatase 1 (PP1) counterbalances these phosphorylation events; PP1 depletion phenocopies ELYS depletion and mislocalizes LBR. siRNA depletion of ELYS and PP1 in cells; phosphorylation analysis by immunoblot; immunofluorescence localization of LBR Journal of cell science Medium 27802161
2020 LBR possesses Δ-14 sterol C14-reductase activity and is the constitutively active C14-sterol reductase (unlike its paralog DHCR14, which is rapidly turned over). LBR protein levels are stable under cholesterol-loading conditions that trigger rapid proteasomal degradation of DHCR14. Epitope-tagged stable expression in CHO-7 cells; cholesterol and sterol loading; proteasome inhibitor assays; sterol reductase activity measurement The Journal of biological chemistry Medium 31911440
2017 LBR's diffusional mobility along the nuclear envelope is regionally variable, consistent with discrete LBR microdomains. Carboxy-terminally truncated LBR mutants retaining only the first four TM domains are hyper-mobile. The full-length protein's dynamics depend on long-range interactions between TM domain loops and the amino-terminal region. FRAP (fluorescence recovery after photobleaching) of LBR-GFP variants; structure–function analysis with truncation mutants PloS one Medium 28118363
2026 Lamin B1 or B2 expression is sufficient to anchor LBR at the nuclear envelope, whereas lamin A expression increases LBR lateral mobility and displaces it from the NE to the ER. This lamin A-induced displacement is mediated by phosphorylation of LBR and is recapitulated by lamin A overexpression in wild-type MEFs. Triple lamin knockout MEFs with reconstitution of individual lamin isoforms; FRAP; immunofluorescence; phosphorylation analysis Nucleus (Austin, Tex.) High 42153377
2025 cTAGE5/MEA6 physically interacts with LBR at ER structures (not only ER exit sites). Loss of cTAGE5 disrupts LBR localization from the INM, causing LBR retention and instability in the ER, leading to abnormal nuclear morphology and cellular senescence via P53/P21 pathway activation. Co-IP (cTAGE5–LBR interaction); conditional cTAGE5 knockout in mice/MEFs; immunofluorescence of LBR localization; senescence assays Aging cell Medium 40739853
2025 LBR is a substrate of the GSK3β/FBW7-mediated proteasome degradation pathway. The disease-associated C337W mutation enhances LBR's interaction with FBW7, promoting its proteasomal degradation. Wild-type (but not C337W mutant) LBR is stabilized by WNT3A-mediated inactivation of GSK3β/FBW7, and LBR participates in WNT3A-activated Wnt signaling through cholesterol synthesis. Co-IP (LBR–FBW7 interaction); proteasome inhibitor assays; siRNA knockdown of LBR; cholesterol supplementation rescue; osteogenic differentiation assay (MC3T3-E1 cells) Biochimica et biophysica acta. Molecular basis of disease Medium 40355051
2026 LBR and LAP2 are key factors for peripheral heterochromatin positioning in both differentiated and pluripotent mammalian cells. Long-term co-depletion of LBR and LAP2 causes global heterochromatin detachment from the NE, repositioning to the nuclear interior, reduction in H3K27me3, massive gene deregulation, activation of antiviral innate immunity, and defects in cell fate determination. siRNA/shRNA depletion of LBR and LAP2; Hi-C chromatin organization; ChIP-seq for H3K27me3; RNA-seq; cell differentiation assays Nature cell biology High 41735607
2024 TOP2B depletion affects genome interactions with LBR more than with lamins. LBR depletion phenocopies TOP2B depletion effects on LAD/iLAD partitioning, and co-depletion of TOP2B and LBR causes partial LAD/iLAD inversion resembling oncogene-induced senescence, indicating complementary roles in organizing the genome at the nuclear lamina. ChIP-seq; DamID; siRNA depletion of LBR and/or TOP2B; genome partitioning analysis bioRxivpreprint Medium bio_10.1101_2024.10.01.616012
2024 Removal of three nuclear lamins and LBR in mouse ESCs causes heterochromatin detachment from the nuclear periphery, with loss of H3K9me2-gene repression and transposon silencing, and failure to differentiate into epiblast-like cells, establishing that the nuclear periphery controls the repressive capacity of H3K9me2 heterochromatin to shape cell fate. CRISPR/Cas9 quadruple knockout (3 lamins + LBR) in mESCs; immunofluorescence; H3K9me2 ChIP-seq; RNA-seq; differentiation assays bioRxivpreprint Medium bio_10.1101_2024.07.08.602542

Source papers

Stage 0 corpus · 47 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 LBR and lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiation. Cell 634 23374351
1997 Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. The Journal of biological chemistry 302 9169472
1994 Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane. The Journal of biological chemistry 194 8157662
2000 Live fluorescence imaging reveals early recruitment of emerin, LBR, RanBP2, and Nup153 to reforming functional nuclear envelopes. Journal of cell science 160 10671368
2001 Histones H3/H4 form a tight complex with the inner nuclear membrane protein LBR and heterochromatin protein 1. EMBO reports 154 11571267
1996 The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope. The EMBO journal 135 9003786
1996 Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 90 8838815
1988 Metabolism of glyphosate in Pseudomonas sp. strain LBr. Applied and environmental microbiology 79 3223761
2013 Safety and tolerability of LBR-101, a humanized monoclonal antibody that blocks the binding of CGRP to its receptor: Results of the Phase 1 program. Cephalalgia : an international journal of headache 65 24366980
1994 Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. The Journal of biological chemistry 60 8157663
1999 Temporal differences in the appearance of NEP-B78 and an LBR-like protein during Xenopus nuclear envelope reassembly reflect the ordered recruitment of functionally discrete vesicle types. The Journal of cell biology 59 9922450
1994 Colocalization of vertebrate lamin B and lamin B receptor (LBR) in nuclear envelopes and in LBR-induced membrane stacks of the yeast Saccharomyces cerevisiae. Proceedings of the National Academy of Sciences of the United States of America 55 7937849
2014 Cardiovascular and hemodynamic parameters in women following prolonged CGRP inhibition using LBR-101, a monoclonal antibody against CGRP. Cephalalgia : an international journal of headache 49 24662322
1998 LBR, a chromatin and lamin binding protein from the inner nuclear membrane, is proteolyzed at late stages of apoptosis. Journal of cell science 49 9570761
2000 Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. Biochemistry 48 10828963
1996 Autoantibodies from patients with primary biliary cirrhosis recognize a region within the nucleoplasmic domain of inner nuclear membrane protein LBR. Hepatology (Baltimore, Md.) 39 8550049
1999 SRPK1 and LBR protein kinases show identical substrate specificities. Biochemical and biophysical research communications 35 10049757
2014 Evaluation of cardiovascular parameters in cynomolgus monkeys following IV administration of LBR-101, a monoclonal antibody against calcitonin gene-related peptide. mAbs 30 24866108
2013 Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. American journal of medical genetics. Part A 27 23824842
2016 ELYS regulates the localization of LBR by modulating its phosphorylation state. Journal of cell science 24 27802161
2020 Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally. The Journal of biological chemistry 23 31911440
2010 Dosage effect of zero to three functional LBR-genes in vivo and in vitro. Nucleus (Austin, Tex.) 19 21326950
2010 LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. Journal of medical genetics 18 20522425
2019 Lamin B receptor (LBR) is involved in the induction of cellular senescence in human cells. Mechanisms of ageing and development 17 30615890
2017 Dynamics and Structure-Function Relationships of the Lamin B Receptor (LBR). PloS one 17 28118363
2014 An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. American journal of medical genetics. Part A 16 25348816
2021 Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation. Communications biology 14 33846535
2018 From LBR-101 to Fremanezumab for Migraine. CNS drugs 14 30311143
2016 Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. Rare diseases (Austin, Tex.) 14 27830109
1998 Velcro in the nuclear envelope: LBR and LAPs. FEBS letters 14 9883877
2018 A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. American journal of medical genetics. Part A 11 30561119
2016 Aberrant localization of lamin B receptor (LBR) in cellular senescence in human cells. Biochemical and biophysical research communications 10 27059139
2018 A common pathomechanism in GMAP-210- and LBR-related diseases. JCI insight 8 30518689
2010 The danger of "multi-tasking": LBR out of control. Nucleus (Austin, Tex.) 7 21327079
2022 The injury-induced transcription factor SOX9 alters the expression of LBR, HMGA2, and HIPK3 in the human kidney. American journal of physiology. Renal physiology 5 36454702
2024 Living Beyond Restriction: LBR promotes cellular immortalization by suppressing genomic instability and senescence. The FEBS journal 4 38646863
2020 A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. Bone 4 32827848
2022 Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. Bone 3 36400164
2021 Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia. American journal of medical genetics. Part A 3 34467646
2009 LMNA, ZMPSTE24, and LBR are not mutated in scleroderma. Genetic testing and molecular biomarkers 1 19645629
2026 LBR and LAP2 mediate heterochromatin tethering to the nuclear periphery to preserve genome homeostasis. Nature cell biology 0 41735607
2026 Antagonistic contributions of A-type and B-type lamins to LBR localization and dynamics. bioRxiv : the preprint server for biology 0 41757046
2026 Antagonistic contributions of A-type and B-type lamins to LBR localization and dynamics. Nucleus (Austin, Tex.) 0 42153377
2025 Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway. Biochimica et biophysica acta. Molecular basis of disease 0 40355051
2025 cTAGE5/MEA6 Regulates LBR Localization to Maintain Nuclear Envelope Integrity and Safeguard Against Aging. Aging cell 0 40739853
2025 A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly. Molecular syndromology 0 41059452
2019 [Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 31515787

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