Matches in SemOpenAlex for { <https://semopenalex.org/work/W2169377511> ?p ?o ?g. }
- W2169377511 endingPage "e1003431" @default.
- W2169377511 startingPage "e1003431" @default.
- W2169377511 abstract "The ten-subunit transcription factor IIH (TFIIH) plays a crucial role in transcription and nucleotide excision repair (NER). Inactivating mutations in the smallest 8-kDa TFB5/TTDA subunit cause the neurodevelopmental progeroid repair syndrome trichothiodystrophy A (TTD-A). Previous studies have shown that TTDA is the only TFIIH subunit that appears not to be essential for NER, transcription, or viability. We studied the consequences of TTDA inactivation by generating a Ttda knock-out (Ttda(-/-) ) mouse-model resembling TTD-A patients. Unexpectedly, Ttda(-/-) mice were embryonic lethal. However, in contrast to full disruption of all other TFIIH subunits, viability of Ttda(-/-) cells was not affected. Surprisingly, Ttda(-/-) cells were completely NER deficient, contrary to the incomplete NER deficiency of TTD-A patient-derived cells. We further showed that TTD-A patient mutations only partially inactivate TTDA function, explaining the relatively mild repair phenotype of TTD-A cells. Moreover, Ttda(-/-) cells were also highly sensitive to oxidizing agents. These findings reveal an essential role of TTDA for life, nucleotide excision repair, and oxidative DNA damage repair and identify Ttda(-/-) cells as a unique class of TFIIH mutants." @default.
- W2169377511 created "2016-06-24" @default.
- W2169377511 creator A5011013919 @default.
- W2169377511 creator A5014343102 @default.
- W2169377511 creator A5014568357 @default.
- W2169377511 creator A5017336276 @default.
- W2169377511 creator A5023539579 @default.
- W2169377511 creator A5045904279 @default.
- W2169377511 creator A5048131699 @default.
- W2169377511 creator A5052209499 @default.
- W2169377511 creator A5065375123 @default.
- W2169377511 creator A5070230556 @default.
- W2169377511 creator A5079527295 @default.
- W2169377511 creator A5079772533 @default.
- W2169377511 creator A5083122927 @default.
- W2169377511 creator A5091763032 @default.
- W2169377511 date "2013-04-18" @default.
- W2169377511 modified "2023-10-15" @default.
- W2169377511 title "Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality" @default.
- W2169377511 cites W1600330290 @default.
- W2169377511 cites W1976385056 @default.
- W2169377511 cites W1981148605 @default.
- W2169377511 cites W1984191455 @default.
- W2169377511 cites W1989339075 @default.
- W2169377511 cites W1991502560 @default.
- W2169377511 cites W2003482071 @default.
- W2169377511 cites W2007771316 @default.
- W2169377511 cites W2008976303 @default.
- W2169377511 cites W2010339813 @default.
- W2169377511 cites W2015429343 @default.
- W2169377511 cites W2016874507 @default.
- W2169377511 cites W2017821403 @default.
- W2169377511 cites W2024280286 @default.
- W2169377511 cites W2028135910 @default.
- W2169377511 cites W2030054148 @default.
- W2169377511 cites W2030900322 @default.
- W2169377511 cites W2032739040 @default.
- W2169377511 cites W2038543938 @default.
- W2169377511 cites W2042447895 @default.
- W2169377511 cites W2045143810 @default.
- W2169377511 cites W2046082575 @default.
- W2169377511 cites W2050570838 @default.
- W2169377511 cites W2050730782 @default.
- W2169377511 cites W2057663036 @default.
- W2169377511 cites W2059051391 @default.
- W2169377511 cites W2059599014 @default.
- W2169377511 cites W2071211317 @default.
- W2169377511 cites W2080605611 @default.
- W2169377511 cites W2083508435 @default.
- W2169377511 cites W2092139028 @default.
- W2169377511 cites W2096136751 @default.
- W2169377511 cites W2101817433 @default.
- W2169377511 cites W2102760916 @default.
- W2169377511 cites W2106515413 @default.
- W2169377511 cites W2106889235 @default.
- W2169377511 cites W2108244474 @default.
- W2169377511 cites W2113599324 @default.
- W2169377511 cites W2119953742 @default.
- W2169377511 cites W2120434953 @default.
- W2169377511 cites W2127956308 @default.
- W2169377511 cites W2130002113 @default.
- W2169377511 cites W2137347518 @default.
- W2169377511 cites W2139697903 @default.
- W2169377511 cites W2140549234 @default.
- W2169377511 cites W2150872961 @default.
- W2169377511 cites W2159326668 @default.
- W2169377511 cites W2170992955 @default.
- W2169377511 cites W4244866225 @default.
- W2169377511 cites W4378744478 @default.
- W2169377511 doi "https://doi.org/10.1371/journal.pgen.1003431" @default.
- W2169377511 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3630102" @default.
- W2169377511 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23637614" @default.
- W2169377511 hasPublicationYear "2013" @default.
- W2169377511 type Work @default.
- W2169377511 sameAs 2169377511 @default.
- W2169377511 citedByCount "32" @default.
- W2169377511 countsByYear W21693775112013 @default.
- W2169377511 countsByYear W21693775112014 @default.
- W2169377511 countsByYear W21693775112015 @default.
- W2169377511 countsByYear W21693775112016 @default.
- W2169377511 countsByYear W21693775112018 @default.
- W2169377511 countsByYear W21693775112019 @default.
- W2169377511 countsByYear W21693775112020 @default.
- W2169377511 countsByYear W21693775112021 @default.
- W2169377511 countsByYear W21693775112022 @default.
- W2169377511 countsByYear W21693775112023 @default.
- W2169377511 crossrefType "journal-article" @default.
- W2169377511 hasAuthorship W2169377511A5011013919 @default.
- W2169377511 hasAuthorship W2169377511A5014343102 @default.
- W2169377511 hasAuthorship W2169377511A5014568357 @default.
- W2169377511 hasAuthorship W2169377511A5017336276 @default.
- W2169377511 hasAuthorship W2169377511A5023539579 @default.
- W2169377511 hasAuthorship W2169377511A5045904279 @default.
- W2169377511 hasAuthorship W2169377511A5048131699 @default.
- W2169377511 hasAuthorship W2169377511A5052209499 @default.
- W2169377511 hasAuthorship W2169377511A5065375123 @default.
- W2169377511 hasAuthorship W2169377511A5070230556 @default.
- W2169377511 hasAuthorship W2169377511A5079527295 @default.