dc.contributor.author | Cristea, Ileana | |
dc.contributor.author | Abarca, Hugo | |
dc.contributor.author | Christensen, Anne Elisabeth | |
dc.contributor.author | Trubnykova, Milana | |
dc.contributor.author | Mehrasa, Roya | |
dc.contributor.author | Peters, Dorien J. M. | |
dc.contributor.author | Houge, Gunnar Douzgos | |
dc.contributor.author | Hennekam, Raoul C. M. | |
dc.contributor.author | Rødahl, Eyvind | |
dc.contributor.author | Bruland, Ove | |
dc.contributor.author | Bredrup, Cecilie | |
dc.date.accessioned | 2024-02-14T14:09:31Z | |
dc.date.available | 2024-02-14T14:09:31Z | |
dc.date.created | 2023-06-19T07:52:47Z | |
dc.date.issued | 2023 | |
dc.identifier.issn | 0014-5793 | |
dc.identifier.uri | https://hdl.handle.net/11250/3117620 | |
dc.description.abstract | Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but are otherwise healthy. In a recently described family with OPDKD, we report the presence of a de novo c.770C > T, p.(Thr257Ile) variant in PELI2 in the affected individual. PELI2 encodes for the E3 ubiquitin ligase Pellino-2. In transgenic U87MG cells overexpressing Pellino-2 with the p.(Thr257Ile) amino acid substitution, constitutive activation of the NLRP3 inflammasome was observed. However, the Thr257Ile variant did not affect Pellino-2 intracellular localization, its binding to known interaction partners, nor its stability. Our findings indicate that constitutive autoactivation of the NLRP3 inflammasome contributes to the development of PELI2-associated OPDKD. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Wiley | en_US |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/deed.no | * |
dc.title | A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia | en_US |
dc.type | Journal article | en_US |
dc.type | Peer reviewed | en_US |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2023 the authors | en_US |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.doi | 10.1002/1873-3468.14597 | |
dc.identifier.cristin | 2155568 | |
dc.source.journal | FEBS Letters | en_US |
dc.source.pagenumber | 1290-1299 | en_US |
dc.identifier.citation | FEBS Letters. 2023, 597 (9), 1290-1299. | en_US |
dc.source.volume | 597 | en_US |
dc.source.issue | 9 | en_US |