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Genet."],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are diseases provoked by mutations in multifunctional proteins that are involved in DNA repair. DNA-repair deficiency explains the high cancer incidence of XP, whereas cancer-free CS, characterized by growth retardation, neurological degeneration, and premature aging does not present as a classical DNA-repair deficiency disorder. Here, we compared a severe combined XP\/CS case provoked by\n                    <jats:italic>XPG<\/jats:italic>\n                    -mutation with an XP \u201conly\u201d patient cell line caused by mutation in the same\n                    <jats:italic>XPG<\/jats:italic>\n                    gene to carve out the pathogenic cellular disturbances that provoke CS. We identified RNA polymerase I transcription and rRNA maturation defects, a highly phosphorylated eukaryotic initiation factor 2 alpha (eIF2alpha), and a shift from cap- to internal ribosomal entry site (IRES) translation, indicating an activated integrated stress response in CS. Disturbances in ribosomal biogenesis and translational control might thus contribute to the development of CS.\n                  <\/jats:p>","DOI":"10.1007\/s00439-025-02804-3","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T04:37:00Z","timestamp":1768970220000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cockayne syndrome mutation in XPG activate the integrated stress response"],"prefix":"10.1007","volume":"145","author":[{"given":"Danhui","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Max","family":"Hartmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhouli","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaojie","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregoire","family":"Najjar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cagatay","family":"G\u00fcnes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Emmert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Scharffetter-Kochanek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Iben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"2804_CR1","doi-asserted-by":"publisher","first-page":"1612","DOI":"10.1016\/j.celrep.2018.04.041","volume":"23","author":"MC Alupei","year":"2018","unstructured":"Alupei MC, Maity P, Esser PR, Krikki I, Tuorto F, Parlato R, Penzo M, Schelling A, Laugel V, Montanaro L, Scharffetter-Kochanek K, Iben S (2018) Loss of proteostasis is a pathomechanism in Cockayne syndrome. 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