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TFIIH mutations can impact on translational fidelity of the ribosome.
Khalid F, Phan T, Qiang M, Maity P, Lasser T, Wiese S, Penzo M, Alupei M, Orioli D, Scharffetter-Kochanek K, Iben S. Khalid F, et al. Among authors: alupei m. Hum Mol Genet. 2023 Mar 20;32(7):1102-1113. doi: 10.1093/hmg/ddac268. Hum Mol Genet. 2023. PMID: 36308430 Free PMC article.
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.
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. Alupei MC, et al. Cell Rep. 2018 May 8;23(6):1612-1619. doi: 10.1016/j.celrep.2018.04.041. Cell Rep. 2018. PMID: 29742419 Free article.
Ribosomal transcription is regulated by PGC-1alpha and disturbed in Huntington's disease.
Jesse S, Bayer H, Alupei MC, Zügel M, Mulaw M, Tuorto F, Malmsheimer S, Singh K, Steinacker J, Schumann U, Ludolph AC, Scharffetter-Kochanek K, Witting A, Weydt P, Iben S. Jesse S, et al. Among authors: alupei mc. Sci Rep. 2017 Aug 17;7(1):8513. doi: 10.1038/s41598-017-09148-7. Sci Rep. 2017. PMID: 28819135 Free PMC article.
11 results