{"id":1946,"date":"2024-03-29T13:03:33","date_gmt":"2024-03-29T13:03:33","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1946"},"modified":"2026-02-22T23:17:11","modified_gmt":"2026-02-22T23:17:11","slug":"subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/29\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\/","title":{"rendered":"Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. Susanna Balcells and M\u00f3nica Centeno)"},"content":{"rendered":"<p>Our research focuses on Schaaf-Yang syndrome (SYS), an ultra rare neurodevelopmental disease caused by truncating mutations in the MAGEL2 gene. Particularly, in this study we explore how these mutations affect the localization of the MAGEL2 protein within cells. By heterologous expression of tagged proteins we found that the truncated forms tend to accumulate more in the nucleus of cells, compared to the healthy version. Notably, mutations associated with a more severe phenotype show a stronger tendency for this mislocalization. Our findings hint at the possibility that this abnormal localization might play a role in the severity of SYS symptoms, potentially paving the way for new research strategies and treatment. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/03\/28\/jmg-2024-109898\">https:\/\/jmg.bmj.com\/content\/early\/2024\/03\/28\/jmg-2024-109898<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/29\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\/unnamed-14\/\" rel=\"attachment wp-att-1947\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1947\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/unnamed-294x300.png\" alt=\"\" width=\"294\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/unnamed-294x300.png 294w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/unnamed-640x652.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/unnamed.png 728w\" sizes=\"auto, (max-width: 294px) 100vw, 294px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our research focuses on Schaaf-Yang syndrome (SYS), an ultra rare neurodevelopmental disease caused by truncating mutations in the MAGEL2 gene. Particularly, in this study we explore how these mutations affect the localization of the MAGEL2 protein within cells. By heterologous expression of tagged proteins we found that the truncated forms tend to accumulate more in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/29\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1946","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. Susanna Balcells and M\u00f3nica Centeno) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/29\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. Susanna Balcells and M\u00f3nica Centeno) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our research focuses on Schaaf-Yang syndrome (SYS), an ultra rare neurodevelopmental disease caused by truncating mutations in the MAGEL2 gene. Particularly, in this study we explore how these mutations affect the localization of the MAGEL2 protein within cells. By heterologous expression of tagged proteins we found that the truncated forms tend to accumulate more in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/29\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-03-29T13:03:33+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:17:11+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/unnamed.png\" \/>\n\t<meta property=\"og:image:width\" content=\"728\" \/>\n\t<meta property=\"og:image:height\" content=\"742\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/29\\\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/29\\\/subcellular-localisation-of-truncated-magel2-proteins-insight-into-the-molecular-pathology-of-schaaf-yang-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome (Contributed by Drs. 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