{"id":233588,"date":"2026-03-18T19:10:51","date_gmt":"2026-03-19T00:10:51","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2026\/03\/abstract-uncovering-a-novel-disease-mechanism-in-partial-lipodystrophy-syndrome-disease"},"modified":"2026-03-18T19:10:51","modified_gmt":"2026-03-19T00:10:51","slug":"abstract-uncovering-a-novel-disease-mechanism-in-partial-lipodystrophy-syndrome-disease","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2026\/03\/abstract-uncovering-a-novel-disease-mechanism-in-partial-lipodystrophy-syndrome-disease","title":{"rendered":"Abstract: Uncovering a novel disease mechanism in partial lipodystrophy syndrome disease"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/abstract108.jpg\"><\/a><\/p>\n<p>Here, Elif A. Oral &amp; team describe a nonsense variant in EBF2 in a patient with an atypical form of partial lipodystrophy and establish a mouse model\u2014linking the EBF2 p. E165X variant to impaired adipogenesis and adipose tissue function.<\/p>\n<p>The image shows inguinal adipose tissue from the EBF2 p. E165X knock-in mouse, demonstrating prominent accumulation of collagen fibers (blue) and elastin-rich eosinophilic material (purple).<\/p>\n<hr>\n<p>\n<sup>1<\/sup>Caswell <i>Diabetes<\/i> Institute and Metabolism, <i>Endocrinology<\/i> and <i>Diabetes<\/i> Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.<\/p>\n<p><sup>2<\/sup>Department of Clinical and Translational <i>Science<\/i>s, University of Pisa, Pisa, Italy.<\/p>\n<p><sup>3<\/sup>Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston, Massachusetts, USA.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Here, Elif A. Oral &amp; team describe a nonsense variant in EBF2 in a patient with an atypical form of partial lipodystrophy and establish a mouse model\u2014linking the EBF2 p. E165X variant to impaired adipogenesis and adipose tissue function. The image shows inguinal adipose tissue from the EBF2 p. E165X knock-in mouse, demonstrating prominent accumulation [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-233588","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/233588","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=233588"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/233588\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=233588"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=233588"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=233588"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}