Affinage

PLEC

Plectin · UniProt Q15149

Length
4684 aa
Mass
531.8 kDa
Annotated
2026-06-10
53 papers in source corpus 12 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 4/4 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Plectin (PLEC) is a giant cytoskeletal crosslinker that anchors intermediate filament networks to membrane junctions and integrates the actin, vimentin, keratin, and microtubule cytoskeletons to maintain tissue mechanical integrity (PMID:8894687). In basal keratinocytes it tethers the keratin filament network to hemidesmosomal complexes, and in muscle it organizes the desmin intermediate filament network and links the sarcolemma to the sarcomere, with these functions partitioned across tissue-specific N-terminal isoforms—isoform 1a being dominant in epidermis and isoform 1f in skeletal muscle (PMID:8941634, PMID:21109228, PMID:25712130). Loss-of-function mutations in PLEC cause tissue-specific fragility disease, including epidermolysis bullosa simplex with muscular dystrophy and EBS with pyloric atresia, and the underlying nonsense and splice-site lesions act by abolishing or attenuating plectin protein (PMID:8894687, PMID:15681471). As a mechanical organizer, plectin sets cytoskeletal viscoelasticity and actin/vimentin turnover, localizes to focal adhesions where it controls their maturation and recruits vimentin, and bridges keratin filaments and microtubules to position pigment organelles. Beyond its structural role, plectin anchors mitochondria through interaction with keratin 8 (KRT8) to modulate mitophagy (PMID:33783309), supports autophagic flux in muscle, and in cancer contexts feeds mechanosensitive oncogenic signaling and antioxidant responses, displacing NRF2 from KEAP1 and acting upstream of FAK/MAPK/PI3K-AKT signaling (PMID:39500864).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1996 High

    Established plectin as the molecular link required to attach the keratin intermediate filament network to hemidesmosomes and to maintain muscle structural integrity, defining its core anchoring function.

    Evidence Homozygous deletion/nonsense mutations with absent plectin by immunofluorescence and EM in patient skin and muscle, showing keratin detachment and aberrant desmin localization

    PMID:8894687 PMID:8941634

    Open questions at the time
    • Did not resolve the binding domains mediating keratin/desmin attachment
    • Did not address which plectin isoforms operate in each tissue
  2. 2005 Medium

    Defined splice-site mutation as a loss-of-function mechanism and extended the disease spectrum to EBS with pyloric atresia.

    Evidence Exon-trapping demonstration of aberrant PLEC1 splicing plus immunohistochemistry on patient tissue

    PMID:15681471

    Open questions at the time
    • No quantitative measure of residual protein function
    • Mechanism of pyloric atresia phenotype not established
  3. 2007 Medium

    Showed that mRNA-level correction restores functional plectin, providing proof-of-concept for therapeutic rescue of dominant-negative alleles.

    Evidence Spliceosome-mediated RNA trans-splicing in EBS-MD patient fibroblasts with protein quantification and immunofluorescence

    PMID:17989727

    Open questions at the time
    • 58.7% protein restoration efficiency limits in vivo applicability
    • No demonstration of restored mechanical/structural function
  4. 2010 High

    Resolved how tissue-specific phenotypes arise by showing isoform 1f selectively links the sarcolemma to the sarcomere in skeletal muscle without skin involvement.

    Evidence Isoform-specific exon 1f mutation with TEM ultrastructural defects and immunofluorescence in patient muscle across three families

    PMID:21109228

    Open questions at the time
    • Did not define the sarcomeric binding partner of P1f
    • Cardiac involvement not addressed
  5. 2015 High

    Confirmed isoform partitioning by showing isoform 1a is the dominant epidermal isoform whose loss produces skin-only EBS, sparing muscle and heart.

    Evidence Isoform-specific exon 1a nonsense mutation analyzed by EM, immunofluorescence, western blot, and qRT-PCR in patient skin and cultured keratinocytes

    PMID:25712130

    Open questions at the time
    • Did not establish redundancy among non-dominant isoforms in skin
    • Hemidesmosome assembly mechanism downstream of P1a not detailed
  6. 2021 Medium

    Extended plectin function beyond filament anchoring by showing it physically tethers mitochondria via KRT8 to modulate fission-mediated mitophagy.

    Evidence Reciprocal co-immunoprecipitation of PLEC-KRT8, live imaging, and mitophagy flux assays in retinal pigment epithelial cells

    PMID:33783309

    Open questions at the time
    • Single lab, RPE-specific context
    • Direct binding interface between PLEC and KRT8 not mapped
  7. 2023 Medium

    Implicated plectin in inner ear function by linking it to mitochondrial potential and ribbon synapse maintenance, broadening its role to neuronal/sensory tissue.

    Evidence Plectin knockdown in zebrafish cochlear hair cells with ribbon synapse immunofluorescence and mitochondrial membrane potential assays

    PMID:37393735

    Open questions at the time
    • Knockdown rather than clean knockout
    • Mechanism connecting plectin to mitochondrial potential at synapses unresolved
  8. 2024 Medium

    Placed plectin in oncogenic and antioxidant signaling by showing it competitively binds KEAP1 to release NRF2 within a ΔNp63α/PLEC/NRF2 radioresistance loop.

    Evidence Co-IP of PLEC-KEAP1, subcellular fractionation for NRF2 translocation, reporter assays, and radiosensitivity readouts in nude mice for esophageal squamous cell carcinoma

    PMID:39500864

    Open questions at the time
    • Single lab and tumor type
    • Direct structural basis of KEAP1 competition not shown
  9. 2025 Medium

    Quantified plectin's biophysical role as a crosslinker setting cytoskeletal viscoelasticity, actin/vimentin turnover, and focal adhesion dynamics.

    Evidence Single-cell compression, FRAP, and confocal imaging in Plec-/- fibroblasts and astrocytes; preprint

    Open questions at the time
    • Preprint, single lab
    • Molecular basis linking crosslinking to FA maturation not fully defined
  10. 2025 Medium

    Linked plectin to muscle autophagic clearance, connecting its structural role to proteostasis maintenance.

    Evidence mCherry-EGFP-LC3B flux reporter, EM, immunoblotting, and in vivo chloroquine in MCK-Cre/cKO mice; preprint

    Open questions at the time
    • Preprint, single lab
    • Whether autophagy defect is causal in muscle pathology or secondary to cytoskeletal disruption unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How plectin's distinct molecular functions—filament anchoring, mitochondrial tethering, autophagy regulation, and signaling scaffolding—are coordinated and partitioned across isoforms and tissues remains unresolved.
  • No unified structural model of isoform-specific interactomes
  • Causal hierarchy between mechanical and signaling functions undefined
  • Mitochondrial/autophagy roles largely from single labs or preprints

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 4 GO:0005198 structural molecule activity 3 GO:0060090 molecular adaptor activity 3
Localization
GO:0005856 cytoskeleton 3 GO:0005886 plasma membrane 3 GO:0005739 mitochondrion 2
Pathway
R-HSA-9612973 Autophagy 2 R-HSA-1474244 Extracellular matrix organization 1
Partners
KEAP1KRT8VIMENTIN
Complex memberships
hemidesmosome

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1996 Homozygous deletion mutations in PLEC1 abolish plectin expression at hemidesmosomes, demonstrated by negative immunofluorescence with anti-plectin antibody (HD-1), establishing that plectin is required for binding of the intermediate keratin filament network to hemidesmosomal complexes in basal keratinocytes and for structural integrity of muscle (sarcolemmal localization). Immunofluorescence, mutation analysis (homozygous deletion identification), electron microscopy of patient skin Human molecular genetics High 8894687
1996 A homozygous nonsense mutation in PLEC1 leads to a premature stop codon, decay of aberrant plectin mRNA, and absence of plectin protein; in skin this causes failure of keratin filaments to connect to the plasma membrane via hemidesmosomes, while in muscle it correlates with aberrant localization of desmin in muscle fibers, establishing plectin as necessary for desmin intermediate filament organization in muscle. Mutation identification (nonsense mutation), immunofluorescence of skin and muscle, mRNA analysis The Journal of clinical investigation High 8941634
2010 A homozygous mutation in exon 1f of PLEC, specific to the plectin isoform 1f, abolishes sarcolemmal plectin staining and causes ultrastructural abnormalities (membrane duplications, enlarged space between membrane and sarcomere, Z-disk misalignment) in skeletal muscle without skin involvement, establishing that plectin isoform 1f specifically links the sarcolemma to the sarcomere in skeletal muscle. Homozygosity mapping, DNA sequencing, transmission electron microscopy, immunofluorescence of patient muscle American journal of human genetics High 21109228
2015 A homozygous nonsense mutation in exon 1a of PLEC, specific to plectin isoform 1a (P1a), causes skin-only EBS with hypoplastic hemidesmosomes and intra-epidermal cleavage without cardiomyopathy or muscle dystrophy, establishing that P1a is the dominant plectin isoform in epidermal basal cells and cultured keratinocytes, and that its loss specifically disrupts hemidesmosome structure in skin while sparing other tissues. DNA sequencing, immunofluorescence antigen mapping, transmission electron microscopy, western blot, qRT-PCR on patient skin and cultured keratinocytes Human molecular genetics High 25712130
2021 Plectin (PLEC) physically interacts with KRT8 (keratin 8) at mitochondria; PLEC anchors mitochondria and KRT8 facilitates mitochondrial fission-mediated mitophagy through this interaction. KRT8 phosphorylation under oxidative stress reduces the PLEC-anchored mitochondria–KRT8 association, modulating mitophagy flux and protecting retinal pigment epithelial cells from necrotic cell death. Co-immunoprecipitation (physical interaction between KRT8 and PLEC), live-cell imaging, mitophagy flux assays, mitochondrial morphology analysis Autophagy Medium 33783309
2024 PLEC competitively interacts with KEAP1, displacing NRF2 from the KEAP1-NRF2 complex and allowing NRF2 translocation from the cytosol to the nucleus where it activates antioxidant gene expression. ΔNP63α directly transactivates PLEC expression, and radiotherapy-induced ROS activates ΔNP63α via NRF2, forming a ΔNp63α/PLEC/NRF2 feedback loop that promotes radioresistance in esophageal squamous cell carcinoma. Transcriptional reporter assays, co-immunoprecipitation (PLEC-KEAP1 interaction), subcellular fractionation (NRF2 nuclear translocation), knockdown/overexpression with functional readouts (ROS levels, radiosensitivity in nude mice) Cell death & disease Medium 39500864
2005 PLEC1 mutations (nonsense and splice-site) cause absent or markedly attenuated plectin expression and EBS with pyloric atresia; an exon-trapping experiment demonstrated that a splice-site mutation induces aberrant splicing of PLEC1, establishing this as a mechanism of loss-of-function. Immunohistochemistry, DNA sequencing, exon-trapping experiment for splice-site mutation functional validation The Journal of molecular diagnostics Medium 15681471
2007 5' trans-splicing (SMaRT) of the PLEC1 transcript in EBS-MD fibroblasts carrying a dominant-negative leucine insertion in exon 9 reduced mutant mRNA levels and restored wild-type plectin expression pattern by immunofluorescence; retroviral delivery increased full-length plectin protein by 58.7%, demonstrating that mRNA-level correction restores plectin protein function. Spliceosome-mediated RNA trans-splicing, transient and retroviral transfection of patient fibroblasts, immunofluorescence, protein quantification The Journal of investigative dermatology Medium 17989727
2022 Gentamicin treatment suppressed PLEC1 premature termination codons in EBS-MD primary keratinocytes, inducing plectin expression in skin (detected by immunofluorescence) for at least 5 months post-treatment, demonstrating translational readthrough as a mechanism to restore plectin protein from nonsense variants. Translational readthrough (gentamicin treatment), immunofluorescence of patient skin before and after treatment JAMA dermatology Low 35234827
2023 Plectin knockdown in cochlear hair cells (zebrafish model) resulted in reduction of synaptic mitochondrial potential and loss of ribbon synapses, establishing a role for plectin in maintaining mitochondrial function and synaptic structure at inner ear ribbon synapses relevant to neuronal transmission. Plectin knockdown in zebrafish inner ear model, immunofluorescence for ribbon synapses, mitochondrial membrane potential assay Hearing research Medium 37393735
2020 CRISPR/Cas9 knockdown of plectin in a mesenchymal stem cell line followed by RNA-sequencing revealed that plectin regulates Wnt signalling, glycosaminoglycan biosynthesis, and immune regulation pathways, placing plectin upstream of these pathways in chondrocyte-relevant cells. CRISPR/Cas9 knockdown, RNA-sequencing pathway analysis Osteoarthritis and cartilage Low 32580029
2025 In plectin-deficient (Plec-/-) myoblasts and muscle-specific conditional plectin knockout (MCK-Cre/cKO) mice, autophagic flux is impaired: autophagosome turnover is reduced (~40% reduction in LC3B red:green ratio), degradative vacuoles and LC3/SQSTM1-positive patches accumulate, and lysosomal/autophagic compartment signal intensities are reduced. Protein levels of LAMP2, BAG3, and SQSTM1 are elevated in knockout muscle lysates. Chloroquine treatment in vivo confirmed impaired autophagic clearance in plectin-deficient muscle. mCherry-EGFP-LC3B autophagy flux reporter, immunofluorescence and electron microscopy, immunoblotting, RNA-seq, CYTO-ID/LYSO-ID dyes, chloroquine treatment in vivo in MCK-Cre/cKO mice bioRxivpreprint Medium
2025 Plectin knockout (Plec-/-) fibroblasts are ~2-fold softer than wild-type, show faster viscoelastic stress relaxation, faster actin turnover (3-fold by FRAP), and altered vimentin network architecture (from fine meshwork to bundled network). This establishes plectin as a regulator of cytoskeletal organization and viscoelastic properties by crosslinking actin and vimentin intermediate filaments. Single-cell compression measurements, FRAP, confocal imaging of vimentin network in Plec+/+ vs Plec-/- fibroblasts bioRxivpreprint Medium
2025 Plectin localizes to focal adhesions (FAs) in mouse astrocytes, where it regulates FA number, maturation, turnover, and mobility of FA components. Plectin polarizes within FAs depending on maturation state and controls recruitment of vimentin to FAs. In plectin-deficient astrocytes, the vimentin network shows impaired connectivity and altered viscoelastic properties. In a reactive astrogliosis model, FA number and size increase alongside elevated plectin expression. Live imaging, immunofluorescence, FRAP, plectin-deficient astrocyte model (localization and functional consequence) bioRxivpreprint Medium
2025 Plectin cytolinkers bridge keratin 5/14 intermediate filaments and microtubules to mechanically control the 3D perinuclear positioning of melanin pigment organelles in human keratinocytes, and this positioning is required for DNA photoprotection. Microrheology, confocal imaging in human disease-related keratinocyte models with plectin disruption, functional readout of DNA photodamage bioRxivpreprint Low
2024 Following actin filament disassembly (cytochalasin D treatment), localized increase of vimentin assembly in the mid-cytoplasm is dependent on the cytolinker plectin, establishing plectin as a mediator of cytoskeletal crosstalk between actin and vimentin networks. Pharmacological disruption of actin (cytochalasin D), vimentin imaging, plectin-dependent vimentin response assessment bioRxivpreprint Low
2024 Genetic or pharmacological inactivation of plectin in autochthonous and orthotopic mouse HCC models suppresses tumor initiation and growth, inhibits invasion and lung metastasis of human HCC cells. Proteomic and phosphoproteomic profiling linked plectin-dependent cytoskeletal disruption to attenuation of FAK, MAPK/Erk, and PI3K/AKT oncogenic signaling, placing plectin upstream of these pathways in hepatocellular carcinoma mechanosensitive signaling. Genetic knockout and pharmacological inhibition (plecstatin-1) in mouse HCC models, proteomic and phosphoproteomic profiling, invasion and metastasis assays bioRxivpreprint Medium
2022 Immunostaining of liver samples from patients with PLEC-related infantile cholestasis revealed scattered cytoplasmic plectin signals in hepatocytes and reduced colocalization of plectin with cytokeratin 8, establishing that plectin normally co-localizes with cytokeratin 8 intermediate filaments in hepatocytes and that disruption of this colocalization is associated with cholestatic disease. Immunofluorescence staining of patient liver biopsy, trio exome sequencing Clinical genetics Low 39168815

Source papers

Stage 0 corpus · 53 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1996 Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Human molecular genetics 134 8894687
2019 Development of a protein-ligand extended connectivity (PLEC) fingerprint and its application for binding affinity predictions. Bioinformatics (Oxford, England) 112 30202917
2003 The Caulobacter crescentus polar organelle development protein PodJ is differentially localized and is required for polar targeting of the PleC development regulator. Molecular microbiology 94 12581350
1996 A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. The Journal of clinical investigation 91 8941634
2010 Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. American journal of human genetics 83 21109228
1989 Turning off flagellum rotation requires the pleiotropic gene pleD: pleA, pleC, and pleD define two morphogenic pathways in Caulobacter crescentus. Journal of bacteriology 77 2536661
2017 A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. Journal of the American College of Cardiology 67 29050564
2007 5' trans-splicing repair of the PLEC1 gene. The Journal of investigative dermatology 57 17989727
2005 Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). The Journal of molecular diagnostics : JMD 56 15681471
2013 The DivJ, CbrA and PleC system controls DivK phosphorylation and symbiosis in Sinorhizobium meliloti. Molecular microbiology 52 23909720
2008 The Anaplasma phagocytophilum PleC histidine kinase and PleD diguanylate cyclase two-component system and role of cyclic Di-GMP in host cell infection. Journal of bacteriology 47 18978058
2019 Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci. Arthritis & rheumatology (Hoboken, N.J.) 44 30730609
2015 Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Human molecular genetics 41 25712130
2021 KRT8 (keratin 8) attenuates necrotic cell death by facilitating mitochondrial fission-mediated mitophagy through interaction with PLEC (plectin). Autophagy 36 33783309
2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. The British journal of dermatology 36 23289980
2020 Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC. Osteoarthritis and cartilage 35 32580029
2010 Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clinical genetics 35 21175599
2010 Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscular disorders : NMD 34 20624679
1997 Roles of the histidine protein kinase pleC in Caulobacter crescentus motility and chemotaxis. Journal of bacteriology 25 9294444
2018 Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. International journal of cancer 24 29761480
2014 Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscular disorders : NMD 23 25454730
2020 Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. Genes 19 32605089
2022 Regulation of the activity of the bacterial histidine kinase PleC by the scaffolding protein PodJ. The Journal of biological chemistry 18 35124010
2017 Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury. Frontiers in neurology 18 28824526
2022 Mutation update: The spectra of PLEC sequence variants and related plectinopathies. Human mutation 17 35815343
2016 Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Veterinary dermatology 15 27878870
2018 A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. BMC dermatology 14 29352809
2021 Circular RNA PLEC acts as a sponge of microRNA-198 to promote gastric carcinoma cell resistance to paclitaxel and tumorigenesis. Pathology, research and practice 13 34225215
2015 Germline copy number loss of UGT2B28 and gain of PLEC contribute to increased human esophageal squamous cell carcinoma risk in Southwest China. American journal of cancer research 13 26693059
2023 Effects of Copy Number Variations in the Plectin (PLEC) Gene on the Growth Traits and Meat Quality of Leizhou Black Goats. Animals : an open access journal from MDPI 11 38067002
2017 Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. Molecular medicine reports 11 28447722
2022 Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants. JAMA dermatology 10 35234827
2014 Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. International journal of dermatology 10 25209331
2024 Epoxy metabolites of linoleic acid promote the development of breast cancer via orchestrating PLEC/NFκB1/CXCL9-mediated tumor growth and metastasis. Cell death & disease 9 39695149
2024 ΔNp63α promotes radioresistance in esophageal squamous cell carcinoma through the PLEC-KEAP1-NRF2 feedback loop. Cell death & disease 8 39500864
2015 Dynamical Localization of DivL and PleC in the Asymmetric Division Cycle of Caulobacter crescentus: A Theoretical Investigation of Alternative Models. PLoS computational biology 8 26186202
2013 Role of helical constraints of the EBS1-IBS1 duplex of a group II intron on demarcation of the 5' splice site. RNA (New York, N.Y.) 7 24243113
2016 Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. Neurology. Genetics 5 27766310
2022 Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1. Frontiers in genetics 4 35432467
2021 Congenital myopathy and epidermolysis bullosa due to PLEC variant. Neuromuscular disorders : NMD 4 34702657
2012 Functional analysis of the single Est1/Ebs1 homologue in Kluyveromyces lactis reveals roles in both telomere maintenance and rapamycin resistance. Eukaryotic cell 4 22544908
2023 Novel biallelic variants in the PLEC gene are associated with severe hearing loss. Hearing research 2 37393735
2022 Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes. Indian journal of dermatology 2 35656234
2022 Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia. The Journal of dermatology 2 35996939
2009 Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea. Journal of pediatric gastroenterology and nutrition 2 19322062
2024 Novel PLEC variants associated with infantile cholestasis. Clinical genetics 1 39168815
2026 Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. Neurogenetics 0 41999517
2025 Novel PLEC-EML4-ALK Double Fusion Underlying Crizotinib Resistance in a Metastatic Inflammatory Myofibroblastic Tumor: A Case Report. JTO clinical and research reports 0 40225953
2025 Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases. The Journal of dermatology 0 40525783
2025 Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone. Indian dermatology online journal 0 40831071
2025 Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype. Muscle & nerve 0 41410238
2024 Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain. International journal of molecular sciences 0 38928066
2023 Identification of AGO2 and PLEC genes polymorphisms in Hu sheep and their relationship with body size traits. Animal biotechnology 0 38149679

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