Affinage

PORCN

Protein-serine O-palmitoleoyltransferase porcupine · UniProt Q9H237

Length
461 aa
Mass
52.3 kDa
Annotated
2026-06-10
78 papers in source corpus 18 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PORCN is an endoplasmic reticulum-resident membrane-bound O-acyltransferase (MBOAT) that lipid-modifies Wnt ligands and thereby gates all Wnt secretion and downstream β-catenin signaling (PMID:23188502, PMID:17546031, PMID:17546030). It catalyzes addition of cis-Δ9 mono-unsaturated palmitoleic acid to a conserved serine at the tip of Wnt hairpin 2, and its active site stereoselectively enforces the correct acyl species: supplying a trans-Δ9 fatty acid traps Wnt–PORCN complexes, defining a fatty-acyl-selective release checkpoint in Wnt biosynthesis (PMID:30737280, PMID:34817055). This palmitoleation is required for Wnt to engage the carrier protein WLS, for Wnt secretion, and for activation of β-catenin reporters, and pharmacological PORCN inhibitors (Wnt-C59, ETC-159, LGK-974) block the modification by occupying the acyl-CoA binding site of the catalytic core [PMID:23188502, PMID:bio_10.1101_2025.05.19.654776]. Structurally, PORCN spans the ER membrane with 11 membrane domains (9 transmembrane helices plus 2 reentrant loops), a luminal N-terminus and cytosolic C-terminus, and an ordered water network in the active site that mediates inhibitor binding [PMID:34186010, PMID:bio_10.1101_2025.05.19.654776]. Through this single biochemical activity PORCN acts cell-autonomously upstream of Wnt: Porcn-deficient cells fail to secrete Wnt yet remain responsive to exogenous Wnt, and PORCN-dependent Wnt secretion is required for gastrulation initiation in the epiblast, mesoderm formation, optic cup morphogenesis, and ectodermal/mesenchymal patterning (PMID:21768372, PMID:23760955, PMID:36393832). Loss-of-function PORCN mutations cause focal dermal hypoplasia by blocking Wnt ligand secretion (PMID:17546031, PMID:17546030, PMID:22412863). In cancer, PORCN inhibition suppresses Wnt-driven and RSPO3-translocated tumors, while PORCN overexpression promotes β-catenin nuclear translocation and EMT in hepatocellular carcinoma (PMID:26257057, PMID:37588740). Beyond canonical Wnt processing, PORCN has been linked to enzyme-independent control of cancer-cell proliferation and to negative regulation of AMPAR surface trafficking, indicating activities not fully explained by Wnt palmitoylation (PMID:22509316, PMID:32984326).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2002 Medium

    Established that human PORCN is a multi-pass ER protein functionally connected to Wnt signaling, framing it as a candidate Wnt-processing enzyme rather than a generic ER protein.

    Evidence cDNA cloning, genomic/isoform analysis, and TCF-responsive reporter assay with WNT7A co-expression

    PMID:12034504

    Open questions at the time
    • Did not demonstrate enzymatic activity or a direct biochemical modification of Wnt
    • Functional role of the four tissue-specific isoforms not resolved
  2. 2007 High

    Linked PORCN to human disease by showing loss-of-function mutations cause focal dermal hypoplasia, establishing an essential in vivo requirement for PORCN in Wnt ligand processing/secretion.

    Evidence Genetic mapping, array CGH, and point-mutation analysis in FDH patients across independent populations

    PMID:17546030 PMID:17546031

    Open questions at the time
    • Did not define the biochemical step PORCN catalyzes
    • Mosaic/heterozygous inheritance left cell-autonomy unresolved
  3. 2008 Medium

    Showed PORCN processing of Wnt is required for Wnt pathway activity and cell survival in cancer cells, nominating PORCN as a tractable pathway node.

    Evidence siRNA knockdown with Wnt reporter and apoptosis assays in lung cancer cell lines

    PMID:18193088

    Open questions at the time
    • Single method per endpoint
    • Did not separate Wnt-dependent from Wnt-independent effects on survival
  4. 2011 High

    Demonstrated PORCN acts cell-autonomously upstream of Wnt secretion in vivo, since Porcn-null cells cannot secrete Wnt but still respond to exogenous Wnt, and tissue-specific deletion recapitulates FDH.

    Evidence Conditional knockout mouse with exogenous Wnt rescue and tissue-specific Cre deletions

    PMID:21768372

    Open questions at the time
    • Did not resolve the specific lipid species added to Wnt
    • No structural basis for substrate selection
  5. 2012 High

    Refined the developmental requirement for PORCN to both ectodermal and mesodermal tissues and validated that human FDH mutations directly impair WNT3A secretion.

    Evidence Tissue-specific conditional knockouts (Prx-Cre, Krt14-Cre) plus cell-based Wnt secretion assays of human PORCN mutants

    PMID:22412863

    Open questions at the time
    • Mechanism linking secretion loss to specific limb/skin phenotypes not fully resolved
  6. 2012 Medium

    Uncovered a candidate Wnt- and catalysis-independent role for PORCN in cancer-cell proliferation, complicating the view that PORCN acts solely through Wnt palmitoylation.

    Evidence siRNA/shRNA knockdown with rescue by catalytically inactive PORCN, WLS RNAi, and IWP inhibitor controls in xenografts

    PMID:22509316

    Open questions at the time
    • Surprising enzyme-independent function awaits independent replication
    • Molecular basis of the non-catalytic activity unknown
  7. 2013 High

    Defined the precise temporal window of PORCN-dependent Wnt secretion in development, showing it is dispensable preimplantation but required in the epiblast to initiate gastrulation.

    Evidence Zygotic, oocyte-specific, and visceral-endoderm-specific conditional knockouts with staged embryo analysis

    PMID:23760955

    Open questions at the time
    • Which specific Wnt ligands drive gastrulation initiation not identified
  8. 2015 High

    Confirmed PORCN inhibition blocks palmitoleation and secretion of all Wnts and identified RSPO3-translocated cancers as a sensitive class, translating the mechanism into a therapeutic stratification.

    Evidence PORCN inhibitor (ETC-159) in RSPO3-translocated CRC patient-derived xenografts with secretion and transcriptome readouts

    PMID:26257057

    Open questions at the time
    • Did not resolve the atomic basis of inhibitor action
  9. 2019 High

    Established the catalytic selectivity of PORCN, showing its active site enforces the cis-Δ9 acyl species and that an incorrect acyl group traps Wnt–PORCN complexes, defining a release checkpoint.

    Evidence Structurally diverse fatty-acyl donor analogs and cross-phylum PORCN expression in MEFs with complex-accumulation assays

    PMID:30737280

    Open questions at the time
    • No atomic structure of the acyl-binding tunnel at this stage
  10. 2020 Medium

    Identified a non-Wnt activity in which PORCN physically interacts with AMPAR subunits and negatively regulates their surface trafficking and currents, broadening PORCN's functional scope.

    Evidence Co-expression, Co-IP with domain-deletion mutants, surface biotinylation, and whole-cell patch-clamp in HEK293T

    PMID:32984326

    Open questions at the time
    • Heterologous system only, no in vivo validation
    • Whether the interaction requires PORCN catalytic activity not tested
  11. 2021 Medium

    Resolved PORCN membrane architecture and a docking model for substrates and inhibitors, providing the first structure-based mechanism for palmitoleation and inhibition.

    Evidence Experimental topology determination plus homology modeling to DltB/MBOAT family with functional mapping of FDH variants and in silico docking

    PMID:34186010 PMID:34817055

    Open questions at the time
    • No experimental high-resolution structure in these studies
    • Catalytic chemistry inferred from models rather than observed
  12. 2022 High

    Extended PORCN's developmental roles to eye morphogenesis and revealed an ER-stress/secretion phenotype in patient cells beyond simple loss of Wnt palmitoylation.

    Evidence Ubiquitous conditional Porcn knockout with proliferation/apoptosis/LEF1 readouts; patient-derived fibroblast ER-stress and secretion assays of the p.Asp283His mutant

    PMID:35101074 PMID:36393832

    Open questions at the time
    • Mechanism connecting PORCN mutation to general ER dysfunction (vs Wnt loss) not dissected
    • Single-patient fibroblast observation
  13. 2023 Medium

    Showed PORCN overexpression activates Wnt/β-catenin signaling and EMT in hepatocellular carcinoma, implicating PORCN gain-of-function in tumor progression.

    Evidence PORCN overexpression in HCC cells with proliferation/migration assays, xenografts, and β-catenin subcellular fractionation

    PMID:37588740

    Open questions at the time
    • No catalytic-mutant control to confirm dependence on palmitoyltransferase activity
  14. 2025 High

    Provided direct atomic-level mechanism of PORCN inhibition, showing diverse inhibitor scaffolds converge on the acyl-CoA binding site via a conserved active-site water network.

    Evidence High-resolution cryo-EM of human PORCN with C59 and ETC-159 and in ligand-free state, with docking simulations (preprint)

    PMID:bio_10.1101_2025.05.19.654776

    Open questions at the time
    • Structure of the catalytically engaged Wnt-substrate complex not captured
    • Preprint, peer review pending

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular basis of PORCN's apparent Wnt-independent functions (cancer-cell proliferation, AMPAR trafficking regulation, ER-stress vulnerability) remains unresolved.
  • Whether non-Wnt activities depend on PORCN catalytic activity is untested in vivo
  • No structure of a Wnt-bound PORCN intermediate
  • AMPAR regulation lacks physiological confirmation

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016740 transferase activity 3 GO:0140096 catalytic activity, acting on a protein 2
Localization
GO:0005783 endoplasmic reticulum 4
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 2 R-HSA-9609507 Protein localization 2
Partners
GRIA1GRIA2GRIA3WLSWNT3AWNT7A

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2012 PORCN is a membrane-bound O-acyltransferase required for Wnt palmitoylation; pharmacological inhibition of PORCN with Wnt-C59 (C59) blocks Wnt palmitoylation, Wnt interaction with the carrier protein Wntless/WLS, Wnt secretion, and Wnt activation of β-catenin reporter activity in vitro at nanomolar concentrations. In vitro PORCN activity assay measuring Wnt palmitoylation, Co-IP of Wnt with WLS, Wnt secretion assay, β-catenin reporter assay; in vivo mouse tumor model Cancer research High 23188502
2015 PORCN inhibition (ETC-159) blocks the palmitoleation (Wnt lipid modification) and secretion of all Wnts, demonstrating that PORCN-mediated Wnt palmitoylation is required for Wnt activity; RSPO3-translocated cancers are sensitive to PORCN inhibition, linking receptor abundance regulation to PORCN-dependent Wnt secretion. PORCN inhibitor treatment in RSPO3-translocated CRC patient-derived xenografts; transcriptome remodeling analysis; Wnt secretion assays Oncogene High 26257057
2007 PORCN encodes a putative O-acyltransferase in the endoplasmic reticulum essential for Wnt protein secretion; loss-of-function mutations in PORCN cause focal dermal hypoplasia (FDH), establishing PORCN as required for Wnt ligand processing and secretion in humans. Genetic mapping, array CGH, point mutation analysis in FDH patients; identified heterozygous/mosaic PORCN mutations Nature genetics High 17546030 17546031
2011 Mouse Porcn-deficient cells exhibit a cell-autonomous defect in Wnt ligand secretion but remain responsive to exogenous Wnts; Porcn hemizygous male embryos fail to generate mesoderm, consistent with loss of Wnt activity; ectodermal Porcn deletion recapitulates FDH skin and limb defects, placing PORCN upstream of Wnt secretion in the ectoderm. Conditional knockout mouse (Cre-lox), embryo phenotype analysis, exogenous Wnt rescue experiment, tissue-specific Cre deletion (ectoderm, mesenchyme) Proceedings of the National Academy of Sciences of the United States of America High 21768372
2012 PORCN is required for the proliferation of a subset of transformed epithelial cancer cells in a Wnt-independent manner; re-expression of catalytically inactive PORCN rescues the proliferation defect caused by PORCN knockdown, demonstrating that this function is independent of PORCN's enzymatic activity in Wnt palmitoylation. siRNA knockdown, inducible shRNA knockdown, orthotopic xenograft, rescue with catalytically inactive PORCN mutant, RNAi of WLS, IWP inhibitor treatment, gene expression profiling PloS one Medium 22509316
2012 Mesenchyme-specific (Prx-Cre) inactivation of Porcn produces FDH-like limb defects; ectodermal (Krt14-Cre) inactivation produces thin skin, alopecia, and abnormal dentition; cell-based assays confirm that human PORCN mutations reduce WNT3A secretion, placing PORCN as essential for Wnt secretion in both ectodermal and mesodermal contexts. Conditional knockout mouse (tissue-specific Cre), cell-based Wnt secretion assay with human PORCN mutants PloS one High 22412863
2002 Human MG61/PORC (PORCN) encodes a multi-pass endoplasmic reticulum protein that can influence Wnt7A activity in a TCF-responsive reporter assay; four protein isoforms (A-D) are generated by alternative splicing in a tissue-specific manner. cDNA cloning, genomic structure analysis, TCF-responsive reporter assay with WNT7A co-expression Gene Medium 12034504
2019 PORCN active-site features enforce cis-Δ9 fatty acylation (palmitoleation) of Wnts; supplying a trans-Δ9 fatty acid causes accumulation of WNT-PORCN complexes, indicating that the correct fatty acyl species is required for release of lipidated Wnt from PORCN, revealing a fatty acyl-selective checkpoint in Wnt biosynthesis. Structurally diverse fatty acyl donor analogs in mouse embryonic fibroblasts expressing PORCN from multiple metazoan phyla; WNT-PORCN complex accumulation assay The Journal of biological chemistry High 30737280
2021 A homology-based structural model of human PORCN reveals 11 membrane domains (9 transmembrane + 2 reentrant loops), an N-terminus oriented to the ER lumen and C-terminus to cytosol; palmitoleoyl-CoA and Wnt hairpin 2 dock into two tunnels in the conserved catalytic core; PORCN adds mono-unsaturated palmitoleic acid to a serine on the tip of Wnt hairpin 2; clinical inhibitors (ETC-159, IWP-L6, LGK-974) dock in the PORCN catalytic site. Homology modeling to MBOAT family members, in silico docking of substrates and inhibitors, functional validation of predicted variants Journal of cell science Medium 34817055
2021 PORCN has 11 membrane domains comprising 9 transmembrane-spanning domains and 2 reentrant domains; N-terminus is oriented toward the ER lumen and C-terminus toward the cytosol; PORCN has a funnel-like structure encapsulated by multiple membrane-spanning helices, consistent with DltB (bacterial MBOAT) topology. Experimental topology determination combined with homology modeling to DltB crystal structure; functional mapping of FDH-associated residues Open biology Medium 34186010
2025 Cryo-EM structures of human PORCN in complex with inhibitors C59 (2.4 Å) and ETC-159 (2.6 Å) and in ligand-free state (3.3 Å) reveal ordered water molecules forming a hydrogen-bonding network in the active site that mediates inhibitor binding; despite different chemical scaffolds, diverse inhibitors adopt similar conformations within the acyl-CoA binding site and engage a conserved water molecule. High-resolution cryo-electron microscopy structure determination; docking simulations of diverse PORCN inhibitors bioRxivpreprint High bio_10.1101_2025.05.19.654776
2013 Porcn-dependent Wnt secretion is first required for initiation of gastrulation in mouse; Porcn function is required in the epiblast but not the visceral endoderm for gastrulation; there is no requirement for Porcn-dependent Wnt ligand secretion during preimplantation development. Conditional knockout using zygotic, oocyte-specific, and visceral endoderm-specific Cre deletions; embryo phenotype analysis at sequential developmental stages Development (Cambridge, England) High 23760955
2020 PORCN negatively regulates AMPAR (GluA1, GluA2, GluA3) trafficking to the plasma membrane and inhibits ligand-gated currents in a subunit-independent manner; this inhibition does not require the amino-terminal domain (ATD) or carboxy-terminal domain (CTD) of GluA subunits; PORCN physically interacts with AMPARs independently of their ATD or CTD. Co-expression in HEK293T cells, whole-cell patch-clamp recording, surface biotinylation assay, Co-IP/pulldown with domain deletion mutants Frontiers in cell and developmental biology Medium 32984326
2008 Knockdown of PORCN (PPN/MG61) by siRNA in lung cancer cells decreases Wnt pathway activity and induces apoptosis, establishing that PORCN-mediated post-translational processing of Wnt proteins is required for Wnt pathway activity in cancer cells. siRNA knockdown, Wnt pathway reporter assay, apoptosis assay in lung cancer cell lines Oncogene Medium 18193088
2022 Conditional ubiquitous inactivation of Porcn in mouse around the eye field stage causes optic vesicles to arrest in growth, fail to form an optic cup, and exhibit decreased ventral proliferation with increased apoptotic cell death; Wnt/β-catenin effector LEF1 is downregulated, indicating PORCN-dependent Wnt secretion controls optic cup morphogenesis through regulation of proliferation and survival. Ubiquitous conditional Porcn knockout (Cre-lox), histology, IHC for transcription factors and LEF1, BrdU proliferation assay, apoptosis assay Frontiers in cell and developmental biology High 36393832
2023 PORCN overexpression promotes HCC cell proliferation and migration by inducing nuclear translocation of β-catenin (EMT), demonstrating that PORCN-mediated Wnt palmitoylation drives Wnt/β-catenin pathway activation and downstream EMT in hepatocellular carcinoma. PORCN overexpression in HCC cells, CCK-8, wound-healing, Transwell assay, xenograft model, immunofluorescence and subcellular fractionation for β-catenin localization Translational cancer research Medium 37588740
2022 Fibroblasts from a patient with a PORCN missense mutation (p.Asp283His) showed altered PORCN protein abundance and distribution, increased vulnerability to ER stress, and impaired protein secretion, indicating that PORCN mutations can disrupt ER function and protein secretion beyond simple loss of Wnt palmitoylation activity. Patient-derived fibroblast analysis: PORCN protein localization, ER stress challenge assay, protein secretion assay Orphanet journal of rare diseases Medium 35101074

Source papers

Stage 0 corpus · 78 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2012 Pharmacological inhibition of the Wnt acyltransferase PORCN prevents growth of WNT-driven mammary cancer. Cancer research 329 23188502
2015 Wnt addiction of genetically defined cancers reversed by PORCN inhibition. Oncogene 278 26257057
2007 Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nature genetics 209 17546031
2007 Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nature genetics 206 17546030
2011 Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. Proceedings of the National Academy of Sciences of the United States of America 146 21768372
2019 PORCN inhibition synergizes with PI3K/mTOR inhibition in Wnt-addicted cancers. Oncogene 71 31391551
2013 Porcn-dependent Wnt signaling is not required prior to mouse gastrulation. Development (Cambridge, England) 63 23760955
2009 PORCN mutations in focal dermal hypoplasia: coping with lethality. Human mutation 58 19309688
2011 Mutation update for the PORCN gene. Human mutation 54 21472892
2002 Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine. Gene 49 12034504
2012 Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PloS one 48 22412863
2012 PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation. PloS one 43 22509316
2006 Differential protection against MPTP or methamphetamine toxicity in dopamine neurons by deletion of ppN/OFQ expression. Journal of neurochemistry 36 16749908
2008 Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clinical genetics 34 18325042
2015 High-threshold Ca2+ channels behind gamma band activity in the pedunculopontine nucleus (PPN). Physiological reports 28 26109189
2002 Effects of pedunculopontine nucleus (PPN) stimulation on caudal pontine reticular formation (PnC) neurons in vitro. Journal of neurophysiology 27 12037206
2009 PORCN gene mutations and the protean nature of focal dermal hypoplasia. The British journal of dermatology 25 19292719
2016 Development of a triazole class of highly potent Porcn inhibitors. Bioorganic & medicinal chemistry letters 24 27876319
1983 Integration of R91-5::Tn501 into the Pseudomonas putida PPN chromosome and genetic circularity of the chromosomal map. Journal of bacteriology 23 6294058
2021 Structural model of human PORCN illuminates disease-associated variants and drug-binding sites. Journal of cell science 22 34817055
2017 Astrocyte-Dependent Slow Inward Currents (SICs) Participate in Neuromodulatory Mechanisms in the Pedunculopontine Nucleus (PPN). Frontiers in cellular neuroscience 22 28203147
2008 Suppression of PPN/MG61 attenuates Wnt/beta-catenin signaling pathway and induces apoptosis in human lung cancer. Oncogene 22 18193088
1985 Chromosomal map of Pseudomonas putida PPN, and a comparison of gene order with the Pseudomonas aeruginosa PAO chromosomal map. Journal of general microbiology 22 3921659
2004 Developmental changes in pedunculopontine nucleus (PPN) neurons. Journal of neurophysiology 21 15010495
2014 Endocannabinoid signaling modulates neurons of the pedunculopontine nucleus (PPN) via astrocytes. Brain structure & function 20 25009314
2007 Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. Journal of dermatological science 20 17951029
2023 Novel PORCN inhibitor WHN-88 targets Wnt/β-catenin pathway and prevents the growth of Wnt-driven cancers. European journal of pharmacology 19 36858339
2009 Novel PORCN mutations in focal dermal hypoplasia. Clinical genetics 19 19863546
2022 Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease. Molecular neurobiology 18 36215026
2019 Stereoselective fatty acylation is essential for the release of lipidated WNT proteins from the acyltransferase Porcupine (PORCN). The Journal of biological chemistry 16 30737280
2024 Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis. Clinical cancer research : an official journal of the American Association for Cancer Research 15 37812478
2016 Intracellular mechanisms modulating gamma band activity in the pedunculopontine nucleus (PPN). Physiological reports 15 27354537
2011 Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. Journal of the European Academy of Dermatology and Venereology : JEADV 15 20626533
2010 PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genetic testing and molecular biomarkers 15 20854095
2018 Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clinical case reports 13 30455901
2012 A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Archives of dermatology 12 22250236
2021 Determination of the membrane topology of PORCN, an O-acyl transferase that modifies Wnt signalling proteins. Open biology 11 34186010
2020 Papain grafted into the silica coated iron-based magnetic nanoparticles 'IONPs@SiO2-PPN' as a new delivery vehicle to the HeLa cells. Nanotechnology 11 31978907
2017 A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Molecular genetics and metabolism reports 11 28626639
2016 Binding properties of ruthenium(II) complexes [Ru(bpy)2(ppn)](2+) and [Ru(phen)2(ppn)](2+) with triplex RNA: As molecular "light switches" and stabilizers for poly(U)·poly(A)*poly(U) triplex. Journal of inorganic biochemistry 11 27287059
1998 Cloning of a novel testis specific protein serine/threonine phosphatase, PPN 58A, from Drosophila melanogaster. Biochimica et biophysica acta 11 9765603
2014 Goltz syndrome and PORCN mosaicism. International journal of dermatology 10 25040319
2010 A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. Fetal and pediatric pathology 10 20704476
2010 Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. Pediatric dermatology 10 21133992
1996 The Reversible Insertion Reaction of Carbon Dioxide with the W(CO)(5)OH(-) Anion. Isolation and Characterization of the Resulting Bicarbonate Complex [PPN][W(CO)(5)O(2)COH]. Inorganic chemistry 10 11666659
2022 Porcn is essential for growth and invagination of the mammalian optic cup. Frontiers in cell and developmental biology 9 36393832
2022 Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet journal of rare diseases 8 35101074
2016 Goltz syndrome and PORCN: A view from Europe. American journal of medical genetics. Part C, Seminars in medical genetics 8 26799923
2013 Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. European journal of dermatology : EJD 8 23399492
2013 Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia. PloS one 7 24223895
1990 Isolation of high frequency of recombination donors from Tn5 chromosomal mutants of Pseudomonas putida PPN and recalibration of the genetic map. Genetics 7 2174392
2023 PORCN promotes hepatocellular carcinogenesis via Wnt/β-catenin-dependent manner. Translational cancer research 6 37588740
2020 PORCN Negatively Regulates AMPAR Function Independently of Subunit Composition and the Amino-Terminal and Carboxy-Terminal Domains of AMPARs. Frontiers in cell and developmental biology 6 32984326
2020 Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. American journal of medical genetics. Part A 6 33111437
2013 Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. American journal of medical genetics. Part A 6 23696273
2012 Effects of leptin on pedunculopontine nucleus (PPN) neurons. Journal of neural transmission (Vienna, Austria : 1996) 6 23263542
2022 Porcn as a novel therapeutic target in cancer therapy:  A review. Cell biology international 5 35971741
2021 De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family. International journal of molecular sciences 4 33557041
2021 Spatial and temporal expression of PORCN is highly dynamic in the developing mouse cochlea. Gene expression patterns : GEP 4 34547456
2016 Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant. Indian journal of dermatology 4 27904205
2022 Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations. Congenital anomalies 3 34962003
2019 Regulation of the Genes Encoding the ppN/OFQ and NOP Receptor. Handbook of experimental pharmacology 3 30689088
2015 Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. Fetal and pediatric pathology 3 26470739
1984 Valuation of protein metabolism and albumin in patients submitted to peripheral parenteral nutrition (PPN). Infusionstherapie und klinische Ernahrung 3 6434413
2022 NutriSup-PPN: A pilot randomized control trial of oral nutritional supplementation (ONS) and peripheral parenteral nutrition (PPN) in canadian, malnourished, hospitalized patients. Clinical nutrition ESPEN 2 36657900
2018 A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report. Cytogenetic and genome research 2 29525789
2025 Discovery and Identification of a Novel PORCN Inhibitor via Structure-Based Virtual Screening. ACS chemical biology 1 40418194
2024 A randomized translational study on protein- and glucose metabolism in skeletal muscles evaluated by gene-ontology, following preoperative oral carbohydrate loading compared to overnight peripheral parenteral nutrition (PPN) before major cancer surgery. Journal of translational medicine 1 39039509
2023 Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype. Prenatal diagnosis 1 37698465
2020 Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation. The journal of gene medicine 1 31984575
2026 Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome. Clinical case reports 0 41641168
2026 Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 0 41834648
2025 Porcupine (PORCN): structural insights, functional mechanisms, and therapeutic potential in Wnt-driven diseases. Bioorganic chemistry 0 40916266
2025 Serum Levels of Wnt/β-catenin Pathway Regulators Dkk-1, PORCN, Notum, and Tiki-1 in Children with Autism Spectrum Disorder. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 0 41582471
2024 [Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form]. Dermatologie (Heidelberg, Germany) 0 38366244
2024 A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features. Molecular syndromology 0 38841326
2016 Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia. Congenital anomalies 0 26603014
2010 [A novel PORCN gene mutation in a patient with focal dermal hypoplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 21154331

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