{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:08:06Z","timestamp":1790788086732,"version":"4.1.0"},"reference-count":100,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Psychiatry"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The C-terminal binding protein 2 (\n                    <jats:italic>CTBP2<\/jats:italic>\n                    ) gene (translational isoforms: CTBP2-L\/S, RIBEYE) had been identified by a cross-trait analysis of genome-wide association studies for anorexia nervosa (AN) and body mass index (BMI). Here, we did a mutation analysis in\n                    <jats:italic>CTBP2<\/jats:italic>\n                    by performing polymerase chain reactions with subsequent Sanger-sequencing to identify variants relevant for AN and body weight regulation and ensued functional studies. Analysis of the coding regions of\n                    <jats:italic>CTBP2<\/jats:italic>\n                    in 462 female patients with AN\u00a0(acute or recovered), 490 children and adolescents with severe obesity, 445 healthy-lean adult individuals and 168 healthy adult individuals with normal body weight detected 24 variants located in the specific exon of RIBEYE.\u00a0In the initial analysis, three of these were rare non-synonymous variants (NSVs) detected heterozygously in patients with AN (p.Arg72Trp - rs146900874; p.Val289Met -rs375685611 and p.Gly362Arg - rs202010294). Four NSVs and one heterozygous\u00a0frameshift variant were exclusively detected in children and adolescents with severe obesity (p.Pro53Ser - rs150867595; p.Gln175Arg\n                    <jats:italic>fs<\/jats:italic>\n                    Ter45 - rs141864737; p.Leu310Val - rs769811964; p.Pro397Ala - rs76134089 and p.Pro402Ser - rs113477585).\n                    <jats:italic>Ribeye<\/jats:italic>\n                    mRNA was detected in mouse hypothalamus. No effect of fasting or overfeeding on murine hypothalamic\n                    <jats:italic>Ribeye<\/jats:italic>\n                    expression was determined. Yet, increased\n                    <jats:italic>Ribeye<\/jats:italic>\n                    expression was detected in hypothalami of leptin-treated\n                    <jats:italic>Lep<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>ob\/ob<\/jats:italic>\n                    <\/jats:sup>\n                    mice. This increase was not related to reduced food intake and leptin-induced weight loss. We detected rare and frequent variants in the\n                    <jats:italic>RIBEYE<\/jats:italic>\n                    specific exon in both patients with AN and in children and adolescents with severe obesity. Our data suggest\n                    <jats:italic>RIBEYE<\/jats:italic>\n                    as a relevant gene for weight regulation.\n                  <\/jats:p>","DOI":"10.1038\/s41380-024-02791-3","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T10:01:59Z","timestamp":1730973719000},"page":"1836-1846","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation"],"prefix":"10.1038","volume":"30","author":[{"given":"Johanna","family":"Giuranna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiran","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6229-1328","authenticated-orcid":false,"given":"Matth\u00e4us","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Jall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amrita","family":"Mukherjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soni","family":"Shankhwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Renner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirup 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