{"entity": "researcher", "timestamp": "2026-07-13T10:16:11.381Z", "family": "Truv\u00e9", "given": "Katarina", "initials": "K", "orcid": "0000-0002-2449-8283", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d"}}, "publications": [{"entity": "publication", "iuid": "914ba3f9eb6f4bed942f6cabc548b913", "links": {"self": {"href": "https://publications.scilifelab.se/publication/914ba3f9eb6f4bed942f6cabc548b913.json"}, "display": {"href": "https://publications.scilifelab.se/publication/914ba3f9eb6f4bed942f6cabc548b913"}}, "title": "Unraveling the role of early coeliac disease diagnosis in the risk of developing immune-mediated renal diseases.", "authors": [{"family": "De Luca", "given": "Francesco", "initials": "F"}, {"family": "Nilsson", "given": "Staffan", "initials": "S"}, {"family": "Truv\u00e9", "given": "Katarina", "initials": "K", "orcid": "0000-0002-2449-8283", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d.json"}}, {"family": "Kuhn", "given": "Hans-Georg", "initials": "HG"}, {"family": "Ejesk\u00e4r", "given": "Katarina", "initials": "K", "orcid": "0000-0001-8962-0860", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c79e724c1954cf39f5511f7a6021513.json"}}, {"family": "Haraldsson", "given": "B\u00f6rje", "initials": "B"}, {"family": "Torinsson Naluai", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-0504-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcf3474dc7054c598cbe3a195deb8a1b.json"}}], "type": "journal article", "published": "2025-03-03", "journal": {"title": "BMC Gastroenterol", "issn": "1471-230X", "volume": "25", "issue": "1", "pages": "125", "issn-l": null}, "abstract": "coeliac disease (CD) is an inflammatory condition of the small intestine caused by immunological intolerance towards dietary gluten. Associations between CD and other autoimmune disorders have been extensively reported. However, the risk in CD patients of developing immune-mediated renal diseases (IMRDs) as a function of the duration of exposure to gluten remains uncharacterized.\n\nwe used data from the Swedish national patient register to retrospectively construct two subcohorts of CD patients by either years before or after CD diagnosis, matched by sex and age to reference individuals (ratio 1:6). Adopting cox regressions, we assessed the risk in CD to develop IMRDs.\n\nwe found that unrecognized CD patients had a higher risk to develop the majority of the IMRDs here investigated compared with matched reference individuals. Following a CD diagnosis, the risk was reduced in eight of the twelve IMRDs. Furthermore, if patients were diagnosed with CD earlier in childhood they showed less or no increased risk to develop IMRDs compared with reference individuals. CD patients diagnosed by the age of 15 had an overall 12% increased risk of developing any IMRD, (HR: 1.12; CI = 1.02, 1.24; p < 0.02), as those with a CD diagnosis between 16 and 30 years of age had a 60% increased risk of developing IMRD (HR: 1.61; CI = 1.36, 1.91; p < 0.001).\n\nOur data show that individuals diagnosed with CD at an earlier age have a lower risk of developing immune-mediated kidney conditions.", "doi": "10.1186/s12876-025-03705-5", "pmid": "40025438", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC11874109"}, {"db": "pii", "key": "10.1186/s12876-025-03705-5"}], "notes": [], "created": "2025-07-08T13:52:51.209Z", "modified": "2025-11-04T11:53:51.029Z"}, {"entity": "publication", "iuid": "8278837d4b3745bab6470962fe1dc162", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8278837d4b3745bab6470962fe1dc162.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8278837d4b3745bab6470962fe1dc162"}}, "title": "Identification of candidate genetic variants and altered protein expression in neural stem and mature neural cells support altered microtubule function to be an essential component in bipolar disorder.", "authors": [{"family": "Truv\u00e9", "given": "Katarina", "initials": "K", "orcid": "0000-0002-2449-8283", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d.json"}}, {"family": "Parris", "given": "Toshima Z", "initials": "TZ", "orcid": "0000-0003-0834-5540", "researcher": {"href": "https://publications.scilifelab.se/researcher/0d528a2bce6c40829c1a6fed69c9f9ef.json"}}, {"family": "Vizlin-Hodzic", "given": "Dzeneta", "initials": "D", "orcid": "0000-0002-9696-7982", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a86a4c8b32a4af8a90240d44504b32b.json"}}, {"family": "Salmela", "given": "Susanne", "initials": "S"}, {"family": "Berger", "given": "Evelin", "initials": "E"}, {"family": "\u00c5gren", "given": "Hans", "initials": "H", "orcid": "0000-0003-0847-6700", "researcher": {"href": "https://publications.scilifelab.se/researcher/51b06f6b0b8d48fcabe31e6eaf1a08ce.json"}}, {"family": "Funa", "given": "Keiko", "initials": "K"}], "type": "journal article", "published": "2020-11-09", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "issn-l": "2158-3188", "volume": "10", "issue": "1", "pages": "390"}, "abstract": "Identification of causative genetic variants leading to the development of bipolar disorder (BD) could result in genetic tests that would facilitate diagnosis. A better understanding of affected genes and pathways is also necessary for targeting of genes that may improve treatment strategies. To date several susceptibility genes have been reported from genome-wide association studies (GWAS), but little is known about specific variants that affect disease development. Here, we performed quantitative proteomics and whole-genome sequencing (WGS). Quantitative proteomics revealed NLRP2 as the most significantly up-regulated protein in neural stem cells and mature neural cells obtained from BD-patient cell samples. These results are in concordance with our previously published transcriptome analysis. Furthermore, the levels of FEZ2 and CADM2 proteins were also significantly differentially expressed in BD compared to control derived cells. The levels of FEZ2 were significantly downregulated in neural stem cells (NSC) while CADM2 was significantly up-regulated in mature neuronal cell culture. Promising novel candidate mutations were identified in the ANK3, NEK3, NEK7, TUBB, ANKRD1, and BRD2 genes. A literature search of candidate variants and deregulated proteins revealed that there are several connections to microtubule function for the molecules putatively involved. Microtubule function in neurons is critical for axon structure and axonal transport. A functional dynamic microtubule is also needed for an advocate response to cellular and environmental stress. If microtubule dynamics is compromised by mutations, it could be followed by deregulated expression forming a possible explanation for the inherited vulnerability to stressful life events that have been proposed to trigger mood episodes in BD patients.", "doi": "10.1038/s41398-020-01056-1", "pmid": "33168801", "labels": {"NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41398-020-01056-1"}, {"db": "pmc", "key": "PMC7652854"}], "notes": [], "created": "2020-12-07T16:38:26.771Z", "modified": "2024-01-16T13:48:41.392Z"}, {"entity": "publication", "iuid": "798d0c199a87482abd2a408a2148a1ac", "links": {"self": {"href": "https://publications.scilifelab.se/publication/798d0c199a87482abd2a408a2148a1ac.json"}, "display": {"href": "https://publications.scilifelab.se/publication/798d0c199a87482abd2a408a2148a1ac"}}, "title": "A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice.", "authors": [{"family": "Purhonen", "given": "Janne", "initials": "J"}, {"family": "Grigorjev", "given": "Vladislav", "initials": "V"}, {"family": "Ekiert", "given": "Robert", "initials": "R", "orcid": "0000-0002-8879-0646", "researcher": {"href": "https://publications.scilifelab.se/researcher/18f5478e3272434f8e04014a4da545b5.json"}}, {"family": "Aho", "given": "Noora", "initials": "N"}, {"family": "Rajendran", "given": "Jayasimman", "initials": "J", "orcid": "0000-0003-3487-8260", "researcher": {"href": "https://publications.scilifelab.se/researcher/92dfb99f063c475086ad84783ab34716.json"}}, {"family": "Pietras", "given": "Rafa\u0142", "initials": "R", "orcid": "0000-0001-8424-6590", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f9c7e05c9284550ad49f0cc9237ad45.json"}}, {"family": "Truv\u00e9", "given": "Katarina", "initials": "K", "orcid": "0000-0002-2449-8283", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c36d2ff5111435aa23416cdfc359b2d.json"}}, {"family": "Wikstr\u00f6m", "given": "M\u00e5rten", "initials": "M", "orcid": "0000-0002-7527-4415", "researcher": {"href": "https://publications.scilifelab.se/researcher/66d471fc1c914756ac37da41bb759da4.json"}}, {"family": "Sharma", "given": "Vivek", "initials": "V"}, {"family": "Osyczka", "given": "Artur", "initials": "A"}, {"family": "Fellman", "given": "Vineta", "initials": "V", "orcid": "0000-0002-1355-5633", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c2179b7025441f688426ab24abd390e.json"}}, {"family": "Kallij\u00e4rvi", "given": "Jukka", "initials": "J", "orcid": "0000-0003-3773-7025", "researcher": {"href": "https://publications.scilifelab.se/researcher/c592c2565d4f42efb54b3e6016968ddf.json"}}], "type": "journal article", "published": "2020-01-16", "journal": {"volume": "11", "issn": "2041-1723", "issue": "1", "pages": "322", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1lp.S78G mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cybp.D254N), affecting the CIII subunit cytochrome b (MT-CYB), in the background with short survival. We utilize maternal inheritance of mtDNA to confirm this as the causative variant and show that it further decreases the low CIII activity in Bcs1lp.S78G tissues to below survival threshold by 35 days of age. Molecular dynamics simulations predict D254N to restrict the flexibility of MT-CYB ef loop, potentially affecting RISP dynamics. In Rhodobacter cytochrome bc1 complex the equivalent substitution causes a kinetics defect with longer occupancy of RISP head domain towards the quinol oxidation site. These findings represent a unique case of spontaneous mitonuclear epistasis and highlight the role of mtDNA variation as modifier of mitochondrial disease phenotypes.", "doi": "10.1038/s41467-019-14201-2", "pmid": "31949167", "labels": {"National Genomics Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "NGI Stockholm (Genomics Applications)": "Service", "Bioinformatics Support and Infrastructure": "Service", "NGI Stockholm (Genomics Production)": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-019-14201-2"}, {"db": "pmc", "key": "PMC6965120"}], "notes": [], "created": "2020-02-03T09:00:33.293Z", "modified": "2021-11-10T12:44:51.374Z"}]}