Integrator complex
From Proteopedia
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== Disease == | == Disease == | ||
| - | Mutations in Int subunit 1 and 8 are associated with rare recessive neurodevelopmental syndromes<ref>PMID:28763441</ref> | + | Mutations in Int subunit 1 and 8 are associated with rare recessive neurodevelopmental syndromes<ref>PMID:28763441</ref>. Mutations in Int subunit 13 are associated with oral-facial-digital syndromes<ref>PMID:36229431</ref>. |
== Relevance == | == Relevance == | ||
Revision as of 10:16, 24 April 2024
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References
- ↑ Wagner EJ, Tong L, Adelman K. Integrator is a global promoter-proximal termination complex. Mol Cell. 2023 Feb 2;83(3):416-427. PMID:36634676 doi:10.1016/j.molcel.2022.11.012
- ↑ Mendoza-Figueroa MS, Tatomer DC, Wilusz JE. The Integrator Complex in Transcription and Development. Trends Biochem Sci. 2020 Nov;45(11):923-934. PMID:32800671 doi:10.1016/j.tibs.2020.07.004
- ↑ Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 Aug 1;13(8):e1006923. PMID:28763441 doi:10.1371/journal.pgen.1006923
- ↑ Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. Nat Commun. 2022 Oct 13;13(1):6054. PMID:36229431 doi:10.1038/s41467-022-33547-8
