| Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis. | Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis.
Peña-Oyarzún D, Flores T, Torres VA, Quest AFG, Lobos-González L, Kretschmar C, Contreras P, Maturana-Ramírez A, Criollo A, Reyes M. | 01/11/2024 |
| A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review. | A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.
Wu R, Zhong W, Chen J, Dou X. | 09/7/2023 |
| Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease. | Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
Macyczko JR, Wang N, Zhao J, Ren Y, Lu W, Ikezu TC, Zhao N, Liu CC, Bu G, Li Y., Free PMC Article | 12/31/2022 |
| Mechanisms and inhibition of Porcupine-mediated Wnt acylation. | Mechanisms and inhibition of Porcupine-mediated Wnt acylation.
Liu Y, Qi X, Donnelly L, Elghobashi-Meinhardt N, Long T, Zhou RW, Sun Y, Wang B, Li X., Free PMC Article | 08/6/2022 |
| A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. | A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T. | 04/23/2022 |
| Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses. | Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses.
Mohamed R, Kennedy C, Willmore WG. | 04/9/2022 |
| Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations. | Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Elhossini RM, Abdel-Hamid MS, Ashaat E, Otaify GA, Dawoud H, Elshimy K, El Ruby M, Aglan M. | 03/12/2022 |
| Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner. | Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
Wawrocka A, Walczak-Sztulpa J, Pawlak M, Gotz-Wieckowska A, Krawczynski MR. | 07/3/2021 |
| De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family. | De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R., Free PMC Article | 04/24/2021 |
| Porcupine Inhibitor LGK974 Downregulates the Wnt Signaling Pathway and Inhibits Clear Cell Renal Cell Carcinoma. | Porcupine Inhibitor LGK974 Downregulates the Wnt Signaling Pathway and Inhibits Clear Cell Renal Cell Carcinoma.
Li J, Wu G, Xu Y, Li J, Ruan N, Chen Y, Zhang Q, Xia Q., Free PMC Article | 11/21/2020 |
| findings demonstrate that dual PORCN and PI3K/mTOR inhibition is a potential strategy for treating Wnt-driven pancreatic cancers | PORCN inhibition synergizes with PI3K/mTOR inhibition in Wnt-addicted cancers.
Zhong Z, Sepramaniam S, Chew XH, Wood K, Lee MA, Madan B, Virshup DM., Free PMC Article | 02/29/2020 |
| Targeting Porcupine or the CBP/beta-catenin interaction seems to be an effective strategy for the inhibition of canonical Wnt signaling in head and neck carcinoma cells. | Inhibition of CBP/β-catenin and porcupine attenuates Wnt signaling and induces apoptosis in head and neck carcinoma cells.
Kleszcz R, Szymańska A, Krajka-Kuźniak V, Baer-Dubowska W, Paluszczak J. | 12/21/2019 |
| Together, these results provide discrete, high-resolution biochemical insights into the mechanism of PORCN-mediated Wnt acylation and pave the way for further detailed biochemical and structural studies. | In vitro reconstitution of Wnt acylation reveals structural determinants of substrate recognition by the acyltransferase human Porcupine.
Lee CJ, Rana MS, Bae C, Li Y, Banerjee A., Free PMC Article | 04/13/2019 |
| Case Report: mosaicism for PORCN mutations in focal dermal hypoplasia (Goltz Syndrome). | Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
Severino-Freire M, Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J. | 04/21/2018 |
| Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A) | An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine.
Asciolla JJ, Miele MM, Hendrickson RC, Resh MD., Free PMC Article | 09/9/2017 |
| Inhibition of Wnt signaling by PORCN inhibition holds promise as differentiation therapy in genetically defined human cancers | Wnt addiction of genetically defined cancers reversed by PORCN inhibition.
Madan B, Ke Z, Harmston N, Ho SY, Frois AO, Alam J, Jeyaraj DA, Pendharkar V, Ghosh K, Virshup IH, Manoharan V, Ong EH, Sangthongpitag K, Hill J, Petretto E, Keller TH, Lee MA, Matter A, Virshup DM., Free PMC Article | 06/24/2017 |
| three distinct members [porcupine (PORCN), hedgehog (Hh) acyltransferase (HHAT) and ghrelin O-acyltransferase (GOAT)] have been shown to acylate specific proteins or peptides. | Membrane bound O-acyltransferases and their inhibitors.
Masumoto N, Lanyon-Hogg T, Rodgers UR, Konitsiotis AD, Magee AI, Tate EW. | 01/2/2016 |
| porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production. | Porcupine is not required for the production of the majority of Wnts from primary human astrocytes and CD8+ T cells.
Richards MH, Seaton MS, Wallace J, Al-Harthi L., Free PMC Article | 12/19/2015 |
| We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene. | Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR., Free PMC Article | 12/19/2015 |
| the Wnt amino acid residues required for recognition and palmitoylation by PORCN | Identification of the WNT1 residues required for palmitoylation by Porcupine.
Miranda M, Galli LM, Enriquez M, Szabo LA, Gao X, Hannoush RN, Burrus LW., Free PMC Article | 02/21/2015 |
| We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN. | Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
Young MP, Sawyer BL, Hartnett ME., Free PMC Article | 10/18/2014 |
| a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly | 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.
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH. | 02/15/2014 |
| We report a typical focal dermal hypoplasia (FDH) patient with a recurrent PORCN mutation, which was previously identified, and a second female, with an almost unilateral FDH and a novel postzygotic PORCN mutation. | Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.
Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T. | 10/19/2013 |
| To the best of our knowledge, this is the second case report that reveals a mutation of the PORCN gene in a patient with almost unilateral focal dermal hypoplasia. | A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.
Asano M, Fujimura T, Wakusawa C, Aoki Y, Matsubara Y, Aiba S. | 06/1/2013 |
| PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion | PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation.
Covey TM, Kaur S, Tan Ong T, Proffitt KD, Wu Y, Tan P, Virshup DM., Free PMC Article | 08/25/2012 |