{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:13:12Z","timestamp":1790716392353,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T00:00:00Z","timestamp":1715817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aging Cell"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nuclear envelopathies are rare genetic diseases that compromise the integrity of the nuclear envelope. Patients with a defect in LEM domain nuclear envelope protein 2 (<jats:italic>LEMD2<\/jats:italic>) leading to LEMD2\u2010associated progeroid syndrome are exceedingly scarce in number, yet they exhibit shared clinical features including skeletal abnormalities and a prematurely\u2010aged appearance. Our study broadens the understanding of LEMD2\u2010associated progeroid syndrome by detailing its phenotypic and molecular characteristics in the first female and fourth reported case, highlighting a distinct impact on metabolic functions. The patient's history revealed growth delay, facial and skeletal abnormalities, and recurrent abdominal pain crises caused by hepatomegaly. Comparisons with the previously documented cases emphasized similarities in skeletal and facial features while showcasing unique variations, notably in cardiac and hepatic manifestations. In\u00a0vitro experiments conducted on patient\u2010derived peripheral blood and urinary epithelial cells and LEMD2\u2010downregulated HepG2 cells confirmed abnormalities in the structure of the nuclear envelope in all three tissue\u2010types. Overall, our work offers a comprehensive profile of a patient with LEMD2\u2010related syndrome, emphasizing the hepatic involvement in the disease and broadening our understanding of clinical and molecular implications. This study not only contributes specific insights into LEMD2\u2010related conditions but also underscores potential therapeutic paths for disorders affecting nuclear envelope dynamics.<\/jats:p>","DOI":"10.1111\/acel.14189","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T05:48:59Z","timestamp":1715924939000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>LEMD2<\/scp>\u2010associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in <i>LEMD2<\/i> gene"],"prefix":"10.1111","volume":"23","author":[{"given":"Alyssia","family":"Matter","sequence":"first","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital Zurich  Zurich 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