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Recently, multiple studies have identified two hotspot mutations in AMOTL1, Arg157 (R157) and Pro160 (P160), in more than ten distinct families presenting with a spectrum of congenital defects, including facial dysmorphisms and cardiac abnormalities. However, the underlying pathogenic mechanism remains elusive. R157 and P160 are located in the highly conserved Tankyrase-binding motif (TBM) of AMOTL1. Here, we show that both the R157C and P160L mutants fail to interact with Tankyrase 1\/2 and Ring finger protein 146, rendering them unable to undergo poly ADP-ribosylation, ubiquitination, and subsequent proteasomal degradation. As a result, these mutants are significantly stabilized and accumulate in the cytoplasm. Accumulated AMOTL1 mutants, in turn, disrupt cell junctions and focal adhesions, thereby inhibiting both the velocity and persistence of cell migration. Furthermore, during zebrafish embryonic development, expression of the R157C mutant leads to craniofacial malformations and defects in cardiac function and skeletal muscle. Our study confirms the role of AMOTL1 mutations in tissue development and uncovers the pathogenic mechanism at both molecular and cellular levels.<\/jats:p>","DOI":"10.1042\/bsr20250149","type":"journal-article","created":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T14:58:37Z","timestamp":1776783517000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Patient-derived\n                    <i>AMOTL1<\/i>\n                    mutations lead to defective cell migration and tissue development"],"prefix":"10.1042","volume":"46","author":[{"given":"Jiaqian","family":"Luo","sequence":"first","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruxin","family":"Jin","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Geng","sequence":"additional","affiliation":[{"name":"2School of Basic Medical Sciences, Wuhan University, Wuhan, China"},{"name":"3School of Life Sciences, Fudan University, Shanghai 200433, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunying","family":"Wang","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwen","family":"Zhu","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenqiang","family":"Gao","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Gao","sequence":"additional","affiliation":[{"name":"4Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai, China"},{"name":"5University of Chinese Academy of Sciences, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Li","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaming","family":"Jiu","sequence":"additional","affiliation":[{"name":"4Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai, China"},{"name":"5University of Chinese Academy of Sciences, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruilin","family":"Zhang","sequence":"additional","affiliation":[{"name":"2School of Basic Medical Sciences, Wuhan University, Wuhan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4834-9335","authenticated-orcid":false,"given":"Fa-Xing","family":"Yu","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1070-2818","authenticated-orcid":false,"given":"Yu","family":"Wang","sequence":"additional","affiliation":[{"name":"1Institute of Pediatrics, Children\u2019s Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2026,5,11]]},"reference":[{"key":"2026051110215333100_B1","doi-asserted-by":"publisher","first-page":"2693","DOI":"10.1016\/j.febslet.2014.02.006","article-title":"The Angiomotins\u2014from discovery to function","volume":"588","author":"Moleirinho","year":"2014","journal-title":"FEBS Lett."},{"key":"2026051110215333100_B2","doi-asserted-by":"publisher","first-page":"e2400076","DOI":"10.1002\/bies.202400076","article-title":"Angiomotin family proteins in the Hippo signaling 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