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A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
van den Heuvel D, Kim M, Wondergem AP, van der Meer PJ, Witkamp M, Lambregtse F, Kim HS, Kan F, Apelt K, Kragten A, González-Prieto R, Vertegaal ACO, Yeo JE, Kim BG, van Doorn R, Schärer OD, Luijsterburg MS. van den Heuvel D, et al. Proc Natl Acad Sci U S A. 2023 Mar 14;120(11):e2208860120. doi: 10.1073/pnas.2208860120. Epub 2023 Mar 9. Proc Natl Acad Sci U S A. 2023. PMID: 36893274 Free PMC article.
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.
Apelt K, White SM, Kim HS, Yeo JE, Kragten A, Wondergem AP, Rooimans MA, González-Prieto R, Wiegant WW, Lunke S, Flanagan D, Pantaleo S, Quinlan C, Hardikar W, van Attikum H, Vertegaal ACO, Wilson BT, Wolthuis RMF, Schärer OD, Luijsterburg MS. Apelt K, et al. J Exp Med. 2021 Mar 1;218(3):e20200622. doi: 10.1084/jem.20200622. J Exp Med. 2021. PMID: 33315086 Free PMC article.
12 results