{"entity": "publication", "iuid": "39952129f3474f088f489acc9253146a", "timestamp": "2026-09-28T11:20:19.183Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/39952129f3474f088f489acc9253146a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/39952129f3474f088f489acc9253146a"}}, "title": "Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.", "authors": [{"family": "Lam", "given": "Matti", "initials": "M"}, {"family": "Moslem", "given": "Mohsen", "initials": "M"}, {"family": "Bryois", "given": "Julien", "initials": "J"}, {"family": "Pronk", "given": "Robin J", "initials": "RJ"}, {"family": "Uhlin", "given": "Elias", "initials": "E"}, {"family": "Ellstr\u00f6m", "given": "Ivar Dehnisch", "initials": "ID"}, {"family": "Laan", "given": "Loora", "initials": "L"}, {"family": "Olive", "given": "Jessica", "initials": "J"}, {"family": "Morse", "given": "Rebecca", "initials": "R"}, {"family": "R\u00f6nnholm", "given": "Harriet", "initials": "H"}, {"family": "Louhivuori", "given": "Lauri", "initials": "L"}, {"family": "Korol", "given": "Sergiy V", "initials": "SV"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}, {"family": "Uhl\u00e9n", "given": "Per", "initials": "P"}, {"family": "Anderlid", "given": "Britt-Marie", "initials": "BM"}, {"family": "Kele", "given": "Malin", "initials": "M"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "Falk", "given": "Anna", "initials": "A"}], "type": "journal article", "published": "2019-10-01", "journal": {"title": "Exp. Cell Res.", "issn": "1090-2422", "volume": "383", "issue": "1", "pages": "111469", "issn-l": "0014-4827"}, "abstract": "We generated human iPS derived neural stem cells and differentiated cells from healthy control individuals and an individual with autism spectrum disorder carrying bi-allelic NRXN1-alpha deletion. We investigated the expression of NRXN1-alpha during neural induction and neural differentiation and observed a pivotal role for NRXN1-alpha during early neural induction and neuronal differentiation. Single cell RNA-seq pinpointed neural stem cells carrying NRXN1-alpha deletion shifting towards radial glia-like cell identity and revealed higher proportion of differentiated astroglia. Furthermore, neuronal cells carrying NRXN1-alpha deletion were identified as immature by single cell RNA-seq analysis, displayed significant depression in calcium signaling activity and presented impaired maturation action potential profile in neurons investigated with electrophysiology. Our observations propose NRXN1-alpha plays an important role for the efficient establishment of neural stem cells, in neuronal differentiation and in maturation of functional excitatory neuronal cells.", "doi": "10.1016/j.yexcr.2019.06.014", "pmid": "31302032", "labels": [], "xrefs": [{"db": "pii", "key": "S0014-4827(19)30309-X"}], "notes": [], "created": "2026-09-23T09:23:14.578Z", "modified": "2026-09-23T09:23:14.592Z"}