{"entity": "researcher", "timestamp": "2026-07-22T17:26:56.903Z", "family": "Schlisio", "given": "S", "initials": "S", "orcid": "0000-0002-2605-3771", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/fa8c1128e0d54cfe80758282ef94809b.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/fa8c1128e0d54cfe80758282ef94809b"}}, "publications": [{"entity": "publication", "iuid": "565d8f3b4cd9490199a4fb8c85baf591", "links": {"self": {"href": "https://publications.scilifelab.se/publication/565d8f3b4cd9490199a4fb8c85baf591.json"}, "display": {"href": "https://publications.scilifelab.se/publication/565d8f3b4cd9490199a4fb8c85baf591"}}, "title": "Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.", "authors": [{"family": "Li", "given": "Shuijie", "initials": "S"}, {"family": "Li", "given": "Wenyu", "initials": "W"}, {"family": "Yuan", "given": "Juan", "initials": "J"}, {"family": "Bullova", "given": "Petra", "initials": "P", "orcid": "0000-0002-5411-2185", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c9fa1a447d749f09e98b2d7b39ce499.json"}}, {"family": "Wu", "given": "Jieyu", "initials": "J", "orcid": "0000-0002-7063-6990", "researcher": {"href": "https://publications.scilifelab.se/researcher/7289b6f5c3a34230bab08796a50c4832.json"}}, {"family": "Zhang", "given": "Xuepei", "initials": "X"}, {"family": "Liu", "given": "Yong", "initials": "Y", "orcid": "0000-0002-0574-2877", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d854de5bb2847b599ebb9ab5b473552.json"}}, {"family": "Plescher", "given": "Monika", "initials": "M"}, {"family": "Rodriguez", "given": "Javier", "initials": "J"}, {"family": "Bedoya-Reina", "given": "Oscar C", "initials": "OC"}, {"family": "Jannig", "given": "Paulo R", "initials": "PR"}, {"family": "Valente-Silva", "given": "Paula", "initials": "P"}, {"family": "Yu", "given": "Meng", "initials": "M"}, {"family": "Henriksson", "given": "Marie Arsenian", "initials": "MA", "orcid": "0000-0001-6376-7792", "researcher": {"href": "https://publications.scilifelab.se/researcher/e78a2e958a7b4eaaa9aecad01f0e7c57.json"}}, {"family": "Zubarev", "given": "Roman A", "initials": "RA"}, {"family": "Smed-S\u00f6rensen", "given": "Anna", "initials": "A"}, {"family": "Suzuki", "given": "Carolyn K", "initials": "CK", "orcid": "0000-0003-2187-7568", "researcher": {"href": "https://publications.scilifelab.se/researcher/86f57ca06463441eb8387e22ad9e7a15.json"}}, {"family": "Ruas", "given": "Jorge L", "initials": "JL", "orcid": "0000-0002-1110-2606", "researcher": {"href": "https://publications.scilifelab.se/researcher/b91c3fde15f7415aa1f6c9263ff913ff.json"}}, {"family": "Holmberg", "given": "Johan", "initials": "J"}, {"family": "Larsson", "given": "Catharina", "initials": "C"}, {"family": "Christofer Juhlin", "given": "C", "initials": "C", "orcid": "0000-0002-5945-9081", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb660e24421749d4acaaf6e9a90042f8.json"}}, {"family": "von Kriegsheim", "given": "Alex", "initials": "A", "orcid": "0000-0002-4952-8573", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fa9e20e6f4042dfb87d38e7f35b6e58.json"}}, {"family": "Cao", "given": "Yihai", "initials": "Y", "orcid": "0000-0003-1308-0065", "researcher": {"href": "https://publications.scilifelab.se/researcher/4bf6e84ee15648159f9f849ac85bd4b7.json"}}, {"family": "Schlisio", "given": "Susanne", "initials": "S", "orcid": "0000-0002-2605-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa8c1128e0d54cfe80758282ef94809b.json"}}], "type": "journal article", "published": "2022-06-00", "journal": {"title": "Nat Metab", "issn": "2522-5812", "volume": "4", "issue": "6", "pages": "739-758", "issn-l": "2522-5812"}, "abstract": "Mitochondria are the main consumers of oxygen within the cell. How mitochondria sense oxygen levels remains unknown. Here we show an oxygen-sensitive regulation of TFAM, an activator of mitochondrial transcription and replication, whose alteration is linked to tumours arising in the von Hippel-Lindau syndrome. TFAM is hydroxylated by EGLN3 and subsequently bound by the von Hippel-Lindau tumour-suppressor protein, which stabilizes TFAM by preventing mitochondrial proteolysis. Cells lacking wild-type VHL or in which EGLN3 is inactivated have reduced mitochondrial mass. Tumorigenic VHL variants leading to different clinical manifestations fail to bind hydroxylated TFAM. In contrast, cells harbouring the Chuvash polycythaemia VHLR200W mutation, involved in hypoxia-sensing disorders without tumour development, are capable of binding hydroxylated TFAM. Accordingly, VHL-related tumours, such as pheochromocytoma and renal cell carcinoma cells, display low mitochondrial content, suggesting that impaired mitochondrial biogenesis is linked to VHL tumorigenesis. Finally, inhibiting proteolysis by targeting LONP1 increases mitochondrial content in VHL-deficient cells and sensitizes therapy-resistant tumours to sorafenib treatment. Our results offer pharmacological avenues to sensitize therapy-resistant VHL tumours by focusing on the mitochondria.", "doi": "10.1038/s42255-022-00593-x", "pmid": "35760869", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "mid", "key": "EMS145242"}, {"db": "pmc", "key": "PMC9236906"}, {"db": "pii", "key": "10.1038/s42255-022-00593-x"}], "notes": [], "created": "2023-11-27T21:50:23.129Z", "modified": "2024-01-16T13:48:36.287Z"}, {"entity": "publication", "iuid": "d0afbf6a0f22480dacd378fbb39437db", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d0afbf6a0f22480dacd378fbb39437db.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d0afbf6a0f22480dacd378fbb39437db"}}, "title": "Single-nuclei transcriptomes from human adrenal gland reveal distinct cellular identities of low and high-risk neuroblastoma tumors.", "authors": [{"family": "Bedoya-Reina", "given": "O C", "initials": "OC"}, {"family": "Li", "given": "W", "initials": "W"}, {"family": "Arceo", "given": "M", "initials": "M"}, {"family": "Plescher", "given": "M", "initials": "M"}, {"family": "Bullova", "given": "P", "initials": "P", "orcid": "0000-0002-5411-2185", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c9fa1a447d749f09e98b2d7b39ce499.json"}}, {"family": "Pui", "given": "H", "initials": "H"}, {"family": "Kaucka", "given": "M", "initials": "M"}, {"family": "Kharchenko", "given": "P", "initials": "P", "orcid": "0000-0002-6036-5875", "researcher": {"href": "https://publications.scilifelab.se/researcher/a67002dec1264bf2865da0017405ee9b.json"}}, {"family": "Martinsson", "given": "T", "initials": "T", "orcid": "0000-0002-9403-3123", "researcher": {"href": "https://publications.scilifelab.se/researcher/90deb3f5dd5446e5853da797411dfd5d.json"}}, {"family": "Holmberg", "given": "J", "initials": "J"}, {"family": "Adameyko", "given": "I", "initials": "I", "orcid": "0000-0001-5471-0356", "researcher": {"href": "https://publications.scilifelab.se/researcher/346f484a56cb4ad5b866b194ccd44e4f.json"}}, {"family": "Deng", "given": "Q", "initials": "Q", "orcid": "0000-0001-5934-7816", "researcher": {"href": "https://publications.scilifelab.se/researcher/b74efaba0fab49acb7164a45beca5cd9.json"}}, {"family": "Larsson", "given": "C", "initials": "C"}, {"family": "Juhlin", "given": "C C", "initials": "CC", "orcid": "0000-0002-5945-9081", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb660e24421749d4acaaf6e9a90042f8.json"}}, {"family": "Kogner", "given": "P", "initials": "P", "orcid": "0000-0002-2202-9694", "researcher": {"href": "https://publications.scilifelab.se/researcher/e963274b921a4a2c8263f509334d4e22.json"}}, {"family": "Schlisio", "given": "S", "initials": "S", "orcid": "0000-0002-2605-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa8c1128e0d54cfe80758282ef94809b.json"}}], "type": "journal article", "published": "2021-09-07", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "12", "issue": "1", "pages": "5309"}, "abstract": "Childhood neuroblastoma has a remarkable variability in outcome. Age at diagnosis is one of the most important prognostic factors, with children less than 1 year old having favorable outcomes. Here we study single-cell and single-nuclei transcriptomes of neuroblastoma with different clinical risk groups and stages, including healthy adrenal gland. We compare tumor cell populations with embryonic mouse sympatho-adrenal derivatives, and post-natal human adrenal gland. We provide evidence that low and high-risk neuroblastoma have different cell identities, representing two disease entities. Low-risk neuroblastoma presents a transcriptome that resembles sympatho- and chromaffin cells, whereas malignant cells enriched in high-risk neuroblastoma resembles a subtype of TRKB+ cholinergic progenitor population identified in human post-natal gland. Analyses of these populations reveal different gene expression programs for worst and better survival in correlation with age at diagnosis. Our findings reveal two cellular identities and a composition of human neuroblastoma tumors reflecting clinical heterogeneity and outcome.", "doi": "10.1038/s41467-021-24870-7", "pmid": "34493726", "labels": {"Eukaryotic Single Cell Genomics (ESCG)": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Production)": "Service", "NGI Stockholm (Genomics Applications)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-24870-7"}, {"db": "pmc", "key": "PMC8423786"}], "notes": [], "created": "2021-09-08T09:33:10.810Z", "modified": "2024-01-16T13:48:38.541Z"}]}