{"entity": "researcher", "timestamp": "2026-08-20T20:42:17.523Z", "family": "Sahl\u00e9n", "given": "Pelin", "initials": "P", "orcid": "0000-0001-6943-9618", "affiliations": ["Science for Life Laboratory, KTH - Royal Institute of Technology, Solna, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6"}}, "publications": [{"entity": "publication", "iuid": "ea55cf6c2b614669b61b17f20844ea1f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ea55cf6c2b614669b61b17f20844ea1f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ea55cf6c2b614669b61b17f20844ea1f"}}, "title": "Transcriptional enhancers in human neuronal differentiation provide clues to neuronal disorders.", "authors": [{"family": "Yoshihara", "given": "Masahito", "initials": "M", "orcid": "0000-0002-8915-9282", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/877ef681b8b64dd7b60f0487e5d0c48e.json"}}, {"family": "Coschiera", "given": "Andrea", "initials": "A", "orcid": "0000-0003-0602-2473", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a5f7aef25c0849578136fb722f836e5d.json"}}, {"family": "Bachmann", "given": "J\u00f6rg A", "initials": "JA"}, {"family": "Pucci", "given": "Mariangela", "initials": "M"}, {"family": "Li", "given": "Haonan", "initials": "H"}, {"family": "Bhagat", "given": "Shruti", "initials": "S"}, {"family": "Murakawa", "given": "Yasuhiro", "initials": "Y"}, {"family": "Weltner", "given": "Jere", "initials": "J"}, {"family": "Jouhilahti", "given": "Eeva-Mari", "initials": "EM"}, {"family": "Swoboda", "given": "Peter", "initials": "P", "orcid": "0000-0001-6416-8572", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d72c25629674f998882ecbefd0efc66.json"}}, {"family": "Sahl\u00e9n", "given": "Pelin", "initials": "P", "orcid": "0000-0001-6943-9618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6.json"}}, {"family": "Kere", "given": "Juha", "initials": "J", "orcid": "0000-0003-1974-0271", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d26c0765a7349cca1abe211339e8f33.json"}}], "type": "journal article", "published": "2025-03-00", "journal": {"title": "EMBO Rep.", "issn": "1469-3178", "volume": "26", "issue": "5", "pages": "1212-1237", "issn-l": "1469-221X"}, "abstract": "Genome-wide association studies (GWASs) have identified thousands of variants associated with complex phenotypes, including neuropsychiatric disorders. To better understand their pathogenesis, it is necessary to identify the functional roles of these variants, which are largely located in non-coding DNA regions. Here, we employ a human mesencephalic neuronal cell differentiation model, LUHMES, with sensitive and high-resolution methods to discover enhancers (NET-CAGE), perform DNA conformation analysis (Capture Hi-C) to link enhancers to their target genes, and finally validate selected interactions. We expand the number of known enhancers active in differentiating human LUHMES neurons to 47,350, and find overlap with GWAS variants for Parkinson's disease and schizophrenia. Our findings reveal a fine-tuned regulation of human neuronal differentiation, even between adjacent developmental stages; provide a valuable resource for further studies on neuronal development, regulation, and disorders; and emphasize the importance of exploring the vast regulatory potential of non-coding DNA and enhancers.", "doi": "10.1038/s44319-025-00372-1", "pmid": "39948187", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11893885"}, {"db": "pii", "key": "10.1038/s44319-025-00372-1"}], "notes": [], "created": "2026-08-20T09:26:43.778Z", "modified": "2026-08-20T09:26:43.995Z"}, {"entity": "publication", "iuid": "12ca663cdcfa4ec8874e907aac97b4fa", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/12ca663cdcfa4ec8874e907aac97b4fa.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/12ca663cdcfa4ec8874e907aac97b4fa"}}, "title": "Prenylcysteine Oxidase 1 Is a Key Regulator of Adipogenesis.", "authors": [{"family": "Banfi", "given": "Cristina", "initials": "C", "orcid": "0000-0003-3346-9879", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/778c1f4a87144653952de1d313f9499b.json"}}, {"family": "Mallia", "given": "Alice", "initials": "A", "orcid": "0000-0002-7088-9074", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8924fddb528e4dde9698cc8e4c40179b.json"}}, {"family": "Ghilardi", "given": "Stefania", "initials": "S"}, {"family": "Brioschi", "given": "Maura", "initials": "M"}, {"family": "Gianazza", "given": "Erica", "initials": "E", "orcid": "0000-0003-2370-947X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/406cb56d1d0e4489883731bb89d6b21c.json"}}, {"family": "Eligini", "given": "Sonia", "initials": "S", "orcid": "0000-0002-5507-6737", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/419bfccdd51b4479814f35145bee6b19.json"}}, {"family": "Sahl\u00e9n", "given": "Pelin", "initials": "P", "orcid": "0000-0001-6943-9618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6.json"}}, {"family": "Baetta", "given": "Roberta", "initials": "R", "orcid": "0000-0001-7190-4638", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d9cf819a29c54cc0b24ecea2dc682569.json"}}], "type": "journal article", "published": "2023-02-21", "journal": {"title": "Antioxidants (Basel)", "issn": "2076-3921", "volume": "12", "issue": "3", "issn-l": null}, "abstract": "The process of adipogenesis involves the differentiation of preadipocytes into mature adipocytes. Excessive adipogenesis promotes obesity, a condition that increasingly threatens global health and contributes to the rapid rise of obesity-related diseases. We have recently shown that prenylcysteine oxidase 1 (PCYOX1) is a regulator of atherosclerosis-disease mechanisms, which acts through mechanisms not exclusively related to its pro-oxidant activity. To address the role of PCYOX1 in the adipogenic process, we extended our previous observations confirming that Pcyox1-/-/Apoe-/- mice fed a high-fat diet for 8 or 12 weeks showed significantly lower body weight, when compared to Pcyox1+/+/Apoe-/- mice, due to an evident reduction in visceral adipose content. We herein assessed the role of PCYOX1 in adipogenesis. Here, we found that PCYOX1 is expressed in adipose tissue, and, independently from its pro-oxidant enzymatic activity, is critical for adipogenesis. Pcyox1 gene silencing completely prevented the differentiation of 3T3-L1 preadipocytes, by acting as an upstream regulator of several key players, such as FABP4, PPAR\u03b3, C/EBP\u03b1. Proteomic analysis, performed by quantitative label-free mass spectrometry, further strengthened the role of PCYOX1 in adipogenesis by expanding the list of its downstream targets. Finally, the absence of Pcyox1 reduces the inflammatory markers in adipose tissue. These findings render PCYOX1 a novel adipogenic factor with possible pathophysiological or therapeutic potential.", "doi": "10.3390/antiox12030542", "pmid": "36978789", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10045348"}, {"db": "pii", "key": "antiox12030542"}], "notes": [], "created": "2026-08-20T13:38:26.128Z", "modified": "2026-08-20T13:38:26.438Z"}, {"entity": "publication", "iuid": "83cc6c4f4b8e4b10baedcf3bc5624bd0", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/83cc6c4f4b8e4b10baedcf3bc5624bd0.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/83cc6c4f4b8e4b10baedcf3bc5624bd0"}}, "title": "Current challenges in understanding the role of enhancers in disease.", "authors": [{"family": "Zaugg", "given": "Judith Barbara", "initials": "JB", "orcid": "0000-0001-8324-4040", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/92616e343b154213adaf604304df145b.json"}}, {"family": "Sahl\u00e9n", "given": "Pelin", "initials": "P", "orcid": "0000-0001-6943-9618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02f6e34531ec4364b39e30417ff2a4e6.json"}}, {"family": "Andersson", "given": "Robin", "initials": "R", "orcid": "0000-0003-1516-879X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/af2c9c777ea343f79ede5e0ccc973274.json"}}, {"family": "Alberich-Jorda", "given": "Meritxell", "initials": "M"}, {"family": "de Laat", "given": "Wouter", "initials": "W", "orcid": "0000-0002-5603-0095", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6e6fadae5d7d4169bdf8742e9eb18270.json"}}, {"family": "Deplancke", "given": "Bart", "initials": "B", "orcid": "0000-0001-9935-843X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/beaa96c0c3ea4fbe8f1508f96cbe7b9d.json"}}, {"family": "Ferrer", "given": "Jorge", "initials": "J"}, {"family": "Mandrup", "given": "Susanne", "initials": "S", "orcid": "0000-0002-0961-5787", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/385b86cd99b944b9b9a250d94dc48899.json"}}, {"family": "Natoli", "given": "Gioacchino", "initials": "G", "orcid": "0000-0003-0711-2411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1d4e97382a6b4d55af9530307f68b5af.json"}}, {"family": "Plewczynski", "given": "Dariusz", "initials": "D", "orcid": "0000-0002-3840-7610", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ff593fc7bee442b86022ffddf15acab.json"}}, {"family": "Rada-Iglesias", "given": "Alvaro", "initials": "A", "orcid": "0000-0001-7137-1341", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b755d4805f584113a83210c111c6e2ab.json"}}, {"family": "Spicuglia", "given": "Salvatore", "initials": "S", "orcid": "0000-0002-8101-7108", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e24bed7568884b799668b66ec4d9787e.json"}}], "type": "journal article", "published": "2022-12-00", "journal": {"title": "Nat. Struct. Mol. Biol.", "issn": "1545-9985", "volume": "29", "issue": "12", "pages": "1148-1158", "issn-l": "1545-9985"}, "abstract": "Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression. Here we discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.", "doi": "10.1038/s41594-022-00896-3", "pmid": "36482255", "labels": [], "xrefs": [{"db": "pii", "key": "10.1038/s41594-022-00896-3"}], "notes": [], "created": "2026-08-20T09:03:50.794Z", "modified": "2026-08-20T09:03:51.145Z"}]}