{"entity": "researcher", "timestamp": "2026-09-23T21:54:41.909Z", "family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "affiliations": ["Genome Engineering Zebrafish Facility, Science For Life Laboratory, Uppsala University, SE-752 36 Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d"}}, "publications": [{"entity": "publication", "iuid": "b133fe25e23448d59edc6b20d0a38b30", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30"}}, "title": "Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.", "authors": [{"family": "Habicher", "given": "Judith", "initials": "J", "orcid": "0000-0002-8691-8650", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4788622ebc424f4e96c8100b99b2294a.json"}}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Waldmann", "given": "Laura", "initials": "L", "orcid": "0000-0002-3619-0796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7053118951d4bbda72058715017046a.json"}}, {"family": "Snitting", "given": "Daniel", "initials": "D", "orcid": "0000-0001-9704-6336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7947d4b34495440cb4b0acdbf49bfffb.json"}}, {"family": "Allalou", "given": "Amin", "initials": "A", "orcid": "0000-0003-4028-8443", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48a26837e4ce48dfada540aa1dbd23cf.json"}}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "Ghanem", "given": "Abdurrahman", "initials": "A", "orcid": "0000-0002-4388-6222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71ba79d7402b477ba257510c62900d3b.json"}}, {"family": "\u00d6hman M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Dierker", "given": "Tabea", "initials": "T", "orcid": "0000-0003-1991-2723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c9ff3f39bc9b48a08cb0f0ad2583f487.json"}}, {"family": "Kjell\u00e9n", "given": "Lena", "initials": "L"}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0003-1147-0596", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/68cb29ca7d284d7292a0793852d86598.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}], "type": "journal article", "published": "2022-02-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "18", "issue": "2", "pages": "e1010067", "issn-l": "1553-7390"}, "abstract": "Chondroitin/dermatan sulfate (CS/DS) proteoglycans are indispensable for animal development and homeostasis but the large number of enzymes involved in their biosynthesis have made CS/DS function a challenging problem to study genetically. In our study, we generated loss-of-function alleles in zebrafish genes encoding CS/DS biosynthetic enzymes and characterized the effect on development in single and double mutants. Homozygous mutants in chsy1, csgalnact1a, csgalnat2, chpfa, ust and chst7, respectively, develop to adults. However, csgalnact1a-/- fish develop distinct craniofacial defects while the chsy1-/- skeletal phenotype is milder and the remaining mutants display no gross morphological abnormalities. These results suggest a high redundancy for the CS/DS biosynthetic enzymes and to further reduce CS/DS biosynthesis we combined mutant alleles. The craniofacial phenotype is further enhanced in csgalnact1a-/-;chsy1-/- adults and csgalnact1a-/-;csgalnact2-/- larvae. While csgalnact1a-/-;csgalnact2-/- was the most affected allele combination in our study, CS/DS is still not completely abolished. Transcriptome analysis of chsy1-/-, csgalnact1a-/- and csgalnact1a-/-;csgalnact2-/- larvae revealed that the expression had changed in a similar way in the three mutant lines but no differential expression was found in any of fifty GAG biosynthesis enzymes identified. Thus, zebrafish larvae do not increase transcription of GAG biosynthesis genes as a consequence of decreased CS/DS biosynthesis. The new zebrafish lines develop phenotypes similar to clinical characteristics of several human congenital disorders making the mutants potentially useful to study disease mechanisms and treatment.", "doi": "10.1371/journal.pgen.1010067", "pmid": "35192612", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8896900"}, {"db": "pii", "key": "PGENETICS-D-21-00836"}], "notes": [], "created": "2026-09-23T12:17:33.422Z", "modified": "2026-09-23T12:17:33.586Z"}, {"entity": "publication", "iuid": "cfb5f7cf383344f883f79d759a13ae54", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/cfb5f7cf383344f883f79d759a13ae54.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/cfb5f7cf383344f883f79d759a13ae54"}}, "title": "The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension.", "authors": [{"family": "Morikawa", "given": "Masato", "initials": "M", "orcid": "0000-0002-6191-7176", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b9bdbfae5ccc46abadd9bda329dfce14.json"}}, {"family": "Mitani", "given": "Yoshihide", "initials": "Y"}, {"family": "Holmborn", "given": "Katarina", "initials": "K"}, {"family": "Kato", "given": "Taichi", "initials": "T", "orcid": "0000-0001-7084-4565", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1059e582f5c14373a16e867af54cfc51.json"}}, {"family": "Koinuma", "given": "Daizo", "initials": "D", "orcid": "0000-0001-5611-2122", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14df9a6f4d4c4346836c083482a0b563.json"}}, {"family": "Maruyama", "given": "Junko", "initials": "J"}, {"family": "Vasilaki", "given": "Eleftheria", "initials": "E", "orcid": "0000-0001-6743-8523", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/889105cab7ba42c2a1afaa5efb7416d9.json"}}, {"family": "Sawada", "given": "Hirofumi", "initials": "H", "orcid": "0000-0001-8069-5751", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7140a86dfc3c4f6eacc978bf877e7f00.json"}}, {"family": "Kobayashi", "given": "Mai", "initials": "M"}, {"family": "Ozawa", "given": "Takayuki", "initials": "T"}, {"family": "Morishita", "given": "Yasuyuki", "initials": "Y"}, {"family": "Bessho", "given": "Yasumasa", "initials": "Y"}, {"family": "Maeda", "given": "Shingo", "initials": "S", "orcid": "0000-0002-2737-3902", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bc267e00e15240c6b2b2104da7b6e566.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}, {"family": "Aburatani", "given": "Hiroyuki", "initials": "H", "orcid": "0000-0003-0438-1544", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c54f25400ccd405d8b1724eb7889851b.json"}}, {"family": "Kageyama", "given": "Ryoichiro", "initials": "R"}, {"family": "Maruyama", "given": "Kazuo", "initials": "K", "orcid": "0000-0003-3685-6348", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0c4b1efc895346a1be949d7e93c1e46b.json"}}, {"family": "Heldin", "given": "Carl-Henrik", "initials": "CH", "orcid": "0000-0002-9508-896X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5bca6678f5eb4baf853fca6ed5f9b726.json"}}, {"family": "Miyazono", "given": "Kohei", "initials": "K", "orcid": "0000-0001-7341-0172", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88b0a85433264e96a3c4f2e27ca0e3f7.json"}}], "type": "journal article", "published": "2019-11-12", "journal": {"title": "Sci Signal", "issn": "1937-9145", "volume": "12", "issue": "607", "issn-l": "1945-0877"}, "abstract": "Dysregulated bone morphogenetic protein (BMP) signaling in endothelial cells (ECs) is implicated in vascular diseases such as pulmonary arterial hypertension (PAH). Here, we showed that the transcription factor ATOH8 was a direct target of SMAD1/5 and was induced in a manner dependent on BMP but independent of Notch, another critical signaling pathway in ECs. In zebrafish and mice, inactivation of Atoh8 did not cause an arteriovenous malformation-like phenotype, which may arise because of dysregulated Notch signaling. In contrast, Atoh8-deficient mice exhibited a phenotype mimicking PAH, which included increased pulmonary arterial pressure and right ventricular hypertrophy. Moreover, ATOH8 expression was decreased in PAH patient lungs. We showed that in cells, ATOH8 interacted with hypoxia-inducible factor 2\u03b1 (HIF-2\u03b1) and decreased its abundance, leading to reduced induction of HIF-2\u03b1 target genes in response to hypoxia. Together, these findings suggest that the BMP receptor type II/ALK-1/SMAD/ATOH8 axis may attenuate hypoxic responses in ECs in the pulmonary circulation and may help prevent the development of PAH.", "doi": "10.1126/scisignal.aay4430", "pmid": "31719172", "labels": [], "xrefs": [{"db": "mid", "key": "EMS85032"}, {"db": "pmc", "key": "PMC6908447"}, {"db": "pii", "key": "12/607/eaay4430"}], "notes": [], "created": "2026-09-23T09:53:46.857Z", "modified": "2026-09-23T10:27:53.013Z"}, {"entity": "publication", "iuid": "60d27c87226741ffbe32d39fa95fd92f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/60d27c87226741ffbe32d39fa95fd92f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/60d27c87226741ffbe32d39fa95fd92f"}}, "title": "Amyloid precursor protein-b facilitates cell adhesion during early development in zebrafish", "authors": [{"family": "Banote", "given": "Rakesh Kumar", "initials": "RK", "orcid": "0000-0003-4871-0725", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8716ebe05e4c42d4bdfab3adf24ba9e3.json"}}, {"family": "Chebli", "given": "Jasmine", "initials": "J"}, {"family": "\u015eat\u0131r", "given": "Tu\u011f\u00e7e Munise", "initials": "TM"}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Camacho", "given": "Rafael", "initials": "R", "orcid": "0000-0003-2325-6407", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3780b1445dc344f396ed0d901e2aa9f3.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0002-9586-5511", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7f64aca705b487e9d1e5edc19614cb9.json"}}, {"family": "Abramsson", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-4715-9225", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a26d10266c5c44548c3514a8196f902a.json"}}, {"family": "Zetterberg", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3930-4354", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/18365a2ea4ec4ca2baeb657cd1c8bd8f.json"}}], "type": "posted-content", "published": "2019-10-05", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/795187", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T14:40:29.405Z", "modified": "2026-09-23T14:40:29.594Z"}]}