{"entity": "researcher", "timestamp": "2026-07-20T13:41:02.356Z", "family": "B\u00f6lte", "given": "Sven", "initials": "S", "orcid": "0000-0002-4579-4970", "affiliations": ["Center of Neurodevelopmental Disorders (KIND), Division of Neuropsychiatry, Department of Women's and Children's Health, Karolinska Institutet, and Center for Psychiatry Research, Region Stockholm, Sweden.", "Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden.", "Curtin Autism Research Group, School of Occupational Therapy, Social Work and Speech Pathology, Curtin University, Perth, Western, Australia."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/bead50319cae447f90bcf7658d9edf56.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/bead50319cae447f90bcf7658d9edf56"}}, "publications": [{"entity": "publication", "iuid": "1885732477df47578922cf7104309bdb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1885732477df47578922cf7104309bdb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1885732477df47578922cf7104309bdb"}}, "title": "Urine metabolomic profiles of autism and autistic traits-A twin study.", "authors": [{"family": "Arora", "given": "Abishek", "initials": "A", "orcid": "0000-0002-6149-4417", "researcher": {"href": "https://publications.scilifelab.se/researcher/384ef4f8d6eb49d6873c87556843a7a2.json"}}, {"family": "Mastropasqua", "given": "Francesca", "initials": "F", "orcid": "0000-0003-4237-2446", "researcher": {"href": "https://publications.scilifelab.se/researcher/30aece0009c94ace82728640c71682f7.json"}}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S", "orcid": "0000-0002-4579-4970", "researcher": {"href": "https://publications.scilifelab.se/researcher/bead50319cae447f90bcf7658d9edf56.json"}}, {"family": "Tammimies", "given": "Kristiina", "initials": "K", "orcid": "0000-0002-8324-4697", "researcher": {"href": "https://publications.scilifelab.se/researcher/ba19ec07147743c6942ea10c9a92482a.json"}}], "type": "journal article", "published": "2024-09-03", "journal": {"title": "PLoS ONE", "issn": "1932-6203", "volume": "19", "issue": "9", "pages": "e0308224", "issn-l": "1932-6203"}, "abstract": "Currently, there are no reliable biomarkers for autism diagnosis. The heterogeneity of autism and several co-occurring conditions are key challenges to establishing these. Here, we used untargeted mass spectrometry-based urine metabolomics to investigate metabolic differences for autism diagnosis and autistic traits in a well-characterized twin cohort (N = 105). We identified 208 metabolites in the urine samples of the twins. No clear, significant metabolic drivers for autism diagnosis were detected when controlling for other neurodevelopmental conditions. However, we identified nominally significant changes for several metabolites. For instance, phenylpyruvate (p = 0.019) and taurine (p = 0.032) were elevated in the autism group, while carnitine (p = 0.047) was reduced. We furthermore accounted for the shared factors, such as genetics within the twin pairs, and report additional metabolite differences. Based on the nominally significant metabolites for autism diagnosis, the arginine and proline metabolism pathway (p = 0.024) was enriched. We also investigated the association between quantitative autistic traits, as measured by the Social Responsiveness Scale 2nd Edition, and metabolite differences, identifying a greater number of nominally significant metabolites and pathways. A significant positive association between indole-3-acetate and autistic traits was observed within the twin pairs (adjusted p = 0.031). The utility of urine biomarkers in autism, therefore, remains unclear, with mixed findings from different study populations.", "doi": "10.1371/journal.pone.0308224", "pmid": "39226293", "labels": {"Global Proteomics and Proteogenomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11371219"}, {"db": "pii", "key": "PONE-D-23-39743"}], "notes": [], "created": "2024-11-27T13:00:35.687Z", "modified": "2024-11-27T13:00:35.789Z"}, {"entity": "publication", "iuid": "34c38b3d3f564542956074b47323ddb5", "links": {"self": {"href": "https://publications.scilifelab.se/publication/34c38b3d3f564542956074b47323ddb5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/34c38b3d3f564542956074b47323ddb5"}}, "title": "Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis.", "authors": [{"family": "Mastropasqua", "given": "Francesca", "initials": "F", "orcid": "0000-0003-4237-2446", "researcher": {"href": "https://publications.scilifelab.se/researcher/30aece0009c94ace82728640c71682f7.json"}}, {"family": "Oksanen", "given": "Marika", "initials": "M", "orcid": "0000-0003-4140-4282", "researcher": {"href": "https://publications.scilifelab.se/researcher/76a8727638dc49fe88b15052d5741fd5.json"}}, {"family": "Soldini", "given": "Cristina", "initials": "C"}, {"family": "Alatar", "given": "Shemim", "initials": "S", "orcid": "0009-0009-0738-2340", "researcher": {"href": "https://publications.scilifelab.se/researcher/0500cee4755b46479d0818314e5c05a7.json"}}, {"family": "Arora", "given": "Abishek", "initials": "A", "orcid": "0000-0002-6149-4417", "researcher": {"href": "https://publications.scilifelab.se/researcher/384ef4f8d6eb49d6873c87556843a7a2.json"}}, {"family": "Ballarino", "given": "Roberto", "initials": "R", "orcid": "0000-0001-7812-0940", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb720f25876d45c39b9dad1b4b48a6fa.json"}}, {"family": "Molinari", "given": "Maya", "initials": "M"}, {"family": "Agostini", "given": "Federico", "initials": "F", "orcid": "0000-0002-5453-2737", "researcher": {"href": "https://publications.scilifelab.se/researcher/a21ea8b7e9a5427eb0e48a822c840b8b.json"}}, {"family": "Poulet", "given": "Axel", "initials": "A", "orcid": "0000-0002-3415-8960", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4dfc191bbfd4ed6922008f10531835c.json"}}, {"family": "Watts", "given": "Michelle", "initials": "M", "orcid": "0000-0002-3178-3429", "researcher": {"href": "https://publications.scilifelab.se/researcher/28a00d3b8c3e40e1b68fc333a7aa4fb7.json"}}, {"family": "Rabkina", "given": "Ielyzaveta", "initials": "I", "orcid": "0000-0001-5890-4115", "researcher": {"href": "https://publications.scilifelab.se/researcher/509d3fdbf53b45acbae3ddea4903a0ba.json"}}, {"family": "Becker", "given": "Martin", "initials": "M", "orcid": "0000-0001-8442-4246", "researcher": {"href": "https://publications.scilifelab.se/researcher/85eaa4173364473d83506125206a7193.json"}}, {"family": "Li", "given": "Danyang", "initials": "D", "orcid": "0000-0001-7470-6645", "researcher": {"href": "https://publications.scilifelab.se/researcher/01900295a1904ac886960b3eea5915f0.json"}}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM", "orcid": "0000-0002-2488-6024", "researcher": {"href": "https://publications.scilifelab.se/researcher/73c8590243874a0a9f18b9e7138ce9a9.json"}}, {"family": "Isaksson", "given": "Johan", "initials": "J", "orcid": "0000-0003-1033-2618", "researcher": {"href": "https://publications.scilifelab.se/researcher/af22620f762a4a5e80dca3f546223caa.json"}}, {"family": "Lundin Remnelius", "given": "Karl", "initials": "K"}, {"family": "Moslem", "given": "Mohsen", "initials": "M"}, {"family": "Jacob", "given": "Yannick", "initials": "Y", "orcid": "0000-0003-4741-0755", "researcher": {"href": "https://publications.scilifelab.se/researcher/9f553bc5034e4768bad65bf8b1236e6a.json"}}, {"family": "Falk", "given": "Anna", "initials": "A", "orcid": "0000-0003-1634-8610", "researcher": {"href": "https://publications.scilifelab.se/researcher/8b708dfb7f0548589bdee53d6e6b536e.json"}}, {"family": "Crosetto", "given": "Nicola", "initials": "N", "orcid": "0000-0002-3019-6978", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb66f0013e954d99a2be4df7309b7ae3.json"}}, {"family": "Bienko", "given": "Magda", "initials": "M", "orcid": "0000-0002-6499-9082", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a983bc4595448be8b0f7487f17afa7d.json"}}, {"family": "Santini", "given": "Emanuela", "initials": "E", "orcid": "0000-0002-8948-9652", "researcher": {"href": "https://publications.scilifelab.se/researcher/6d176892d0f14922bab782fe4cd69e90.json"}}, {"family": "Borgkvist", "given": "Anders", "initials": "A", "orcid": "0000-0003-1698-0288", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c0f5180d7a74249bcfeb59386a7c65d.json"}}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S", "orcid": "0000-0002-4579-4970", "researcher": {"href": "https://publications.scilifelab.se/researcher/bead50319cae447f90bcf7658d9edf56.json"}}, {"family": "Tammimies", "given": "Kristiina", "initials": "K", "orcid": "0000-0002-8324-4697", "researcher": {"href": "https://publications.scilifelab.se/researcher/ba19ec07147743c6942ea10c9a92482a.json"}}], "type": "journal article", "published": "2023-10-15", "journal": {"title": "Biol Open", "issn": "2046-6390", "volume": "12", "issue": "10", "issn-l": "2046-6390"}, "abstract": "Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed in the human brain and shows the highest postnatal expression in the cerebellum. Recent studies have investigated the role of HNRNPU in cerebral cortical development, but the effects of HNRNPU deficiency on cerebellar development remain unknown. Here, we describe the molecular and cellular outcomes of HNRNPU locus deficiency during in vitro neural differentiation of patient-derived and isogenic neuroepithelial stem cells with a hindbrain profile. We demonstrate that HNRNPU deficiency leads to chromatin remodeling of A/B compartments, and transcriptional rewiring, partly by impacting exon inclusion during mRNA processing. Genomic regions affected by the chromatin restructuring and host genes of exon usage differences show a strong enrichment for genes implicated in epilepsies, intellectual disability, and autism. Lastly, we show that at the cellular level HNRNPU downregulation leads to an increased fraction of neural progenitors in the maturing neuronal population. We conclude that the HNRNPU locus is involved in delayed commitment of neural progenitors to differentiate in cell types with hindbrain profile.", "doi": "10.1242/bio.060113", "pmid": "37815090", "labels": {"Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10581386"}, {"db": "pii", "key": "330791"}], "notes": [], "created": "2023-11-16T12:03:03.393Z", "modified": "2024-01-16T13:48:31.943Z"}, {"entity": "publication", "iuid": "b0d422e67e22439cba7da9453032ef86", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b0d422e67e22439cba7da9453032ef86.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b0d422e67e22439cba7da9453032ef86"}}, "title": "Presynaptic dysfunction in CASK-related neurodevelopmental disorders.", "authors": [{"family": "Becker", "given": "Martin", "initials": "M", "orcid": "0000-0001-8442-4246", "researcher": {"href": "https://publications.scilifelab.se/researcher/85eaa4173364473d83506125206a7193.json"}}, {"family": "Mastropasqua", "given": "Francesca", "initials": "F"}, {"family": "Reising", "given": "Jan Philipp", "initials": "JP"}, {"family": "Maier", "given": "Simon", "initials": "S"}, {"family": "Ho", "given": "Mai-Lan", "initials": "ML"}, {"family": "Rabkina", "given": "Ielyzaveta", "initials": "I"}, {"family": "Li", "given": "Danyang", "initials": "D"}, {"family": "Neufeld", "given": "Janina", "initials": "J", "orcid": "0000-0002-7743-526X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c82ade7791b24c46818bbef76984a383.json"}}, {"family": "Ballenberger", "given": "Lea", "initials": "L"}, {"family": "Myers", "given": "Lynnea", "initials": "L"}, {"family": "Moritz", "given": "Viveka", "initials": "V"}, {"family": "Kele", "given": "Malin", "initials": "M"}, {"family": "Wincent", "given": "Josephine", "initials": "J"}, {"family": "Willfors", "given": "Charlotte", "initials": "C"}, {"family": "Sitnikov", "given": "Rouslan", "initials": "R"}, {"family": "Herlenius", "given": "Eric", "initials": "E", "orcid": "0000-0002-6859-0620", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d634beec270431a8805e609554ce1c9.json"}}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Falk", "given": "Anna", "initials": "A", "orcid": "0000-0003-1634-8610", "researcher": {"href": "https://publications.scilifelab.se/researcher/8b708dfb7f0548589bdee53d6e6b536e.json"}}, {"family": "B\u00f6lte", "given": "Sven", "initials": "S", "orcid": "0000-0002-4579-4970", "researcher": {"href": "https://publications.scilifelab.se/researcher/bead50319cae447f90bcf7658d9edf56.json"}}, {"family": "Tammimies", "given": "Kristiina", "initials": "K", "orcid": "0000-0002-8324-4697", "researcher": {"href": "https://publications.scilifelab.se/researcher/ba19ec07147743c6942ea10c9a92482a.json"}}], "type": "journal article", "published": "2020-09-14", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "issn-l": "2158-3188", "volume": "10", "issue": "1", "pages": "312"}, "abstract": "CASK-related disorders are genetically defined neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK-mutation consequences and neuronal effects using induced pluripotent stem cell-derived neurons from two mutation carriers. One male case with autism spectrum disorder carried a novel splice-site mutation and a female case with intellectual disability carried an intragenic tandem duplication. We show reduction of CASK protein in maturing neurons from the mutation carriers, which leads to significant downregulation of genes involved in presynaptic development and of CASK protein interactors. Furthermore, CASK-deficient neurons showed decreased inhibitory presynapse size as indicated by VGAT staining, which may alter the excitatory-inhibitory (E/I) balance in developing neural circuitries. Using in vivo magnetic resonance spectroscopy quantification of GABA in the male mutation carrier, we further highlight the possibility to validate in vitro cellular data in the brain. Our data show that future pharmacological and clinical studies on targeting presynapses and E/I imbalance could lead to specific treatments for CASK-related disorders.", "doi": "10.1038/s41398-020-00994-0", "pmid": "32929080", "labels": {"Eukaryotic Single Cell Genomics (ESCG)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41398-020-00994-0"}, {"db": "pmc", "key": "PMC7490425"}], "notes": [], "created": "2021-01-11T13:13:34.637Z", "modified": "2024-01-16T13:48:41.715Z"}]}