{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T14:36:21Z","timestamp":1778337381016,"version":"3.51.4"},"reference-count":13,"publisher":"BMJ","issue":"8","funder":[{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["PID2019-107188RB-C21"],"award-info":[{"award-number":["PID2019-107188RB-C21"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["PID2022-141461OB-I00"],"award-info":[{"award-number":["PID2022-141461OB-I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FUNDACI\u00d3 Sant Joan de D\u00e9u- Barcelona","award":["MC-P recipient of Carmen de Torres fellowship"],"award-info":[{"award-number":["MC-P recipient of Carmen de Torres fellowship"]}]},{"name":"Asociaci\u00f3n Espa\u00f1ola del S\u00edndrome Schaaf-Yang"},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CIBERER ACCI19P2AC720-1"],"award-info":[{"award-number":["CIBERER ACCI19P2AC720-1"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023561","name":"Ministerio de Universidades","doi-asserted-by":"publisher","award":["AP-P and EA-C recipients of FPU fellowships"],"award-info":[{"award-number":["AP-P and EA-C recipients of FPU fellowships"]}],"id":[{"id":"10.13039\/501100023561","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,3,20]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>Schaaf-Yang syndrome (SYS) is an ultra-rare neurodevelopmental disorder caused by truncating mutations in <jats:italic>MAGEL2<\/jats:italic>. Heterologous expression of wild-type (WT) or a truncated (p.Gln638*) C-terminal HA-tagged MAGEL2 revealed a shift from a primarily cytoplasmic to a more nuclear localisation for the truncated protein variant. We now extend this analysis to six additional SYS mutations on a N-terminal FLAG-tagged MAGEL2. Our results replicate and extend our previous findings, showing that all the truncated MAGEL2 proteins consistently display a predominant nuclear localisation, irrespective of the C-terminal or N-terminal position and the chemistry of the tag. The variants associated with arthrogryposis multiplex congenita display a more pronounced nuclear retention phenotype, suggesting a correlation between clinical severity and the degree of nuclear mislocalisation. These results point to a neomorphic effect of truncated MAGEL2, which might contribute to the pathogenesis of SYS.<\/jats:p>","DOI":"10.1136\/jmg-2024-109898","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T13:20:31Z","timestamp":1711632031000},"page":"780-782","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8881-0264","authenticated-orcid":false,"given":"M\u00f3nica","family":"Centeno-Pla","sequence":"first","affiliation":[{"name":"Department of Genetics, Microbiology and Statistics, Facultat de Biologia, IBUB, IRSJD, Universitat de Barcelona, Barcelona, Catalunya, Spain"},{"name":"Instituto de Salud Carlos III, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades 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