{"entity": "researcher", "timestamp": "2026-09-25T23:05:05.912Z", "family": "Lu", "given": "Xi", "initials": "X", "orcid": "0000-0002-1650-9974", "affiliations": ["Department of Immunology, Genetics and Pathology, Uppsala University, SE-75108, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d48f888086648e1bf2363f5e49f7185.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d48f888086648e1bf2363f5e49f7185"}}, "publications": [{"entity": "publication", "iuid": "9f1216233fb049d4bfcf825c1376fad3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9f1216233fb049d4bfcf825c1376fad3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9f1216233fb049d4bfcf825c1376fad3"}}, "title": "Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.", "authors": [{"family": "Schuster", "given": "Jens", "initials": "J", "orcid": "0000-0002-4383-9880", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b027b5cce9cc488e88cbf8673f5761b2.json"}}, {"family": "Lu", "given": "Xi", "initials": "X", "orcid": "0000-0002-1650-9974", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d48f888086648e1bf2363f5e49f7185.json"}}, {"family": "Dang", "given": "Yonglong", "initials": "Y", "orcid": "0000-0001-9705-5507", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a828f29d1e8f40a69087ea74c89bc32c.json"}}, {"family": "Klar", "given": "Joakim", "initials": "J", "orcid": "0000-0003-4185-7409", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1ae1ca7083b74698be9381f90cbad008.json"}}, {"family": "Wenz", "given": "Amelie", "initials": "A", "orcid": "0000-0003-1929-382X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/262d770d769340bc8cf743701280a879.json"}}, {"family": "Dahl", "given": "Niklas", "initials": "N", "orcid": "0000-0002-8122-0800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/16529ca196d94a699959c276d3c84960.json"}}, {"family": "Chen", "given": "Xingqi", "initials": "X", "orcid": "0000-0002-5657-2839", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5ffb9d3c94e54fac97be6c78586940eb.json"}}], "type": "journal article", "published": "2024-08-27", "journal": {"title": "Elife", "issn": "2050-084X", "volume": "12", "issn-l": "2050-084X"}, "abstract": "Dravet syndrome (DS) is a devastating early-onset refractory epilepsy syndrome caused by variants in the SCN1A gene. A disturbed GABAergic interneuron function is implicated in the progression to DS but the underlying developmental and pathophysiological mechanisms remain elusive, in particularly at the chromatin level. Induced pluripotent stem cells (iPSCs) derived from DS cases and healthy donors were used to model disease-associated epigenetic abnormalities of GABAergic development. Chromatin accessibility was assessed at multiple time points (Day 0, Day 19, Day 35, and Day 65) of GABAergic differentiation. Additionally, the effects of the commonly used anti-seizure drug valproic acid (VPA) on chromatin accessibility were elucidated in GABAergic cells. The distinct dynamics in the chromatin profile of DS iPSC predicted accelerated early GABAergic development, evident at D19, and diverged further from the pattern in control iPSC with continued differentiation, indicating a disrupted GABAergic maturation. Exposure to VPA at D65 reshaped the chromatin landscape at a variable extent in different iPSC-lines and rescued the observed dysfunctional development of some DS iPSC-GABA. The comprehensive investigation on the chromatin landscape of GABAergic differentiation in DS-patient iPSC offers valuable insights into the epigenetic dysregulations associated with interneuronal dysfunction in DS. Moreover, the detailed analysis of the chromatin changes induced by VPA in iPSC-GABA holds the potential to improve the development of personalized and targeted anti-epileptic therapies.", "doi": "10.7554/eLife.92599", "pmid": "39190448", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11349296"}, {"db": "pii", "key": "92599"}, {"db": "GEO", "key": "GSE274660"}], "notes": [], "created": "2026-08-21T13:08:03.790Z", "modified": "2026-09-24T07:48:27.544Z"}, {"entity": "publication", "iuid": "b02d3b12fc5d4a8a8682bfd0f4d29007", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b02d3b12fc5d4a8a8682bfd0f4d29007.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b02d3b12fc5d4a8a8682bfd0f4d29007"}}, "title": "Cell-lineage controlled epigenetic regulation in glioblastoma stem cells determines functionally distinct subgroups and predicts patient survival.", "authors": [{"family": "Lu", "given": "Xi", "initials": "X", "orcid": "0000-0002-1650-9974", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d48f888086648e1bf2363f5e49f7185.json"}}, {"family": "Maturi", "given": "Naga Prathyusha", "initials": "NP", "orcid": "0000-0002-7726-8617", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e58430368ae74fe19112e0bdc48b151a.json"}}, {"family": "Jarvius", "given": "Malin", "initials": "M"}, {"family": "Yildirim", "given": "Irem", "initials": "I", "orcid": "0000-0003-3602-5544", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8da698d30e754596a074851a63142df0.json"}}, {"family": "Dang", "given": "Yonglong", "initials": "Y"}, {"family": "Zhao", "given": "Linxuan", "initials": "L"}, {"family": "Xie", "given": "Yuan", "initials": "Y"}, {"family": "Tan", "given": "E-Jean", "initials": "EJ", "orcid": "0000-0002-4631-174X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/637ec1be37e045d48f24b852d5b034a3.json"}}, {"family": "Xing", "given": "Pengwei", "initials": "P"}, {"family": "Larsson", "given": "Rolf", "initials": "R"}, {"family": "Frykn\u00e4s", "given": "M\u00e5rten", "initials": "M"}, {"family": "Uhrbom", "given": "Lene", "initials": "L", "orcid": "0000-0001-8595-5698", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bf57deb01a9340b6b5b2174195b6a549.json"}}, {"family": "Chen", "given": "Xingqi", "initials": "X", "orcid": "0000-0002-5657-2839", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5ffb9d3c94e54fac97be6c78586940eb.json"}}], "type": "journal article", "published": "2022-04-25", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "2236", "issn-l": "2041-1723"}, "abstract": "There is ample support for developmental regulation of glioblastoma stem cells. To examine how cell lineage controls glioblastoma stem cell function, we present a cross-species epigenome analysis of mouse and human glioblastoma stem cells. We analyze and compare the chromatin-accessibility landscape of nine mouse glioblastoma stem cell cultures of three defined origins and 60 patient-derived glioblastoma stem cell cultures by assay for transposase-accessible chromatin using sequencing. This separates the mouse cultures according to cell of origin and identifies three human glioblastoma stem cell clusters that show overlapping characteristics with each of the mouse groups, and a distribution along an axis of proneural to mesenchymal phenotypes. The epigenetic-based human glioblastoma stem cell clusters display distinct functional properties and can separate patient survival. Cross-species analyses reveals conserved epigenetic regulation of mouse and human glioblastoma stem cells. We conclude that epigenetic control of glioblastoma stem cells primarily is dictated by developmental origin which impacts clinically relevant glioblastoma stem cell properties and patient survival.", "doi": "10.1038/s41467-022-29912-2", "pmid": "35469026", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9038925"}, {"db": "pii", "key": "10.1038/s41467-022-29912-2"}], "notes": [], "created": "2026-09-23T10:15:04.834Z", "modified": "2026-09-23T10:53:33.312Z"}]}