{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:38:43Z","timestamp":1784594323441,"version":"3.55.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171398"],"award-info":[{"award-number":["82171398"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271437"],"award-info":[{"award-number":["82271437"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32350006"],"award-info":[{"award-number":["32350006"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Science and Technology Innovation 2030 Major Projects of China","award":["STI2030-Major Projects-2022ZD0212600"],"award-info":[{"award-number":["STI2030-Major Projects-2022ZD0212600"]}]},{"name":"Clinical Research Project Supported by Huashan Hospital"},{"DOI":"10.13039\/501100003347","name":"Fudan University","doi-asserted-by":"publisher","award":["YN-013"],"award-info":[{"award-number":["YN-013"]}],"id":[{"id":"10.13039\/501100003347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2024YFC3406700"],"award-info":[{"award-number":["2024YFC3406700"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2024YFC3406705"],"award-info":[{"award-number":["2024YFC3406705"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Pilot Program for Basic Research-Chinese Academy of Sciences"},{"name":"Shanghai Branch","award":["JCYJ-SHFY-2022-006"],"award-info":[{"award-number":["JCYJ-SHFY-2022-006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>GGC repeat expansions in the 5\u2032 untranslated region of the GIPC1 gene have been implicated in the pathogenesis of oculopharyngodistal myopathy type 2 (OPDM2). To investigate the underlying mechanism, we generated a series of reporter constructs to confirm the translation product of GIPC1 expanded GGC repeats. We also developed a specific antibody targeting the predicted N-terminus of the predominant translation product. Its expression and toxicity were validated in patient-derived induced pluripotent stem cell-derived myotubes and a zebrafish model.<\/jats:p>\n                  <jats:p>Here, we demonstrate that the expanded GGC repeats undergo repeat-associated non-AUG (RAN) translation in multiple reading frames, predominantly generating a polyglycine-containing protein (uGIPC1polyG) initiated at an upstream CTG codon. These polyG-containing proteins aggregate and form intranuclear and cytoplasmic p62\/ubiquitin-positive inclusions, which are pathogenic hallmarks of OPDM2. The translation of GGC repeats into a polyG protein also causes mitochondrial dysfunction and disrupts nuclear lamina architecture, thereby inducing cytotoxicity and apoptosis in cell lines, including HEK293T cells, fibroblasts and induced pluripotent stem cell-derived myotubes from OPDM2 patients. Additionally, the zebrafish model exhibits developmental malformation and compromised locomotor function, demonstrating the in vivo toxicity of uGIPC1polyG.<\/jats:p>\n                  <jats:p>These findings suggest that the translation of expanded GGC repeats into a toxic polyG protein might play a crucial role in the pathogenesis of OPDM2, highlighting uGIPC1polyG as a potential biomarker and therapeutic target.<\/jats:p>","DOI":"10.1093\/brain\/awaf390","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T12:36:23Z","timestamp":1760618183000},"page":"1768-1783","source":"Crossref","is-referenced-by-count":4,"title":["Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9526-5498","authenticated-orcid":false,"given":"Kexin","family":"Jiao","sequence":"first","affiliation":[{"name":"Department of Neurology, Huashan 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Center Hospital of Shanghai , Shanghai 200040 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingshi","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pathology, Huashan Hospital, Fudan University , Shanghai 200040 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nachuan","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University , Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , Shanghai 200040 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University , Shanghai 200040 ,","place":["China"]},{"name":"National Center for Neurological Disorders (NCND) , Shanghai 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