Article
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
American journal of human genetics - 4 May 2023
Tepe Burak, Macke Erica L, Niceta Marcello, Weisz Hubshman Monika, Kanca Oguz, Schultz-Rogers Laura, Zarate Yuri A, Schaefer G Bradley, Granadillo De Luque Jorge Luis, Wegner Daniel J, Cogne Benjamin, Gilbert-Dussardier Brigitte, Le Guillou Xavier, Wagner Eric J, Pais Lynn S, Neil Jennifer E, Mochida Ganeshwaran H, Walsh Christopher A, Magal Nurit, Drasinover Valerie, Shohat Mordechai, Schwab Tanya, Schmitz Chris, Clark Karl, Fine Anthony, Lanpher Brendan, Gavrilova Ralitza, Blanc Pierre, Burglen Lydie, Afenjar Alexandra, Steel Dora, Kurian Manju A, Prabhakar Prab, Gößwein Sophie, Di Donato Nataliya, Bertini Enrico S, Wangler Michael F, Yamamoto Shinya, Tartaglia Marco, Klee Eric W, Bellen Hugo J
Abstract excerpt
The Integrator complex is a multi-subunit protein complex that regulates the processing of nascent RNAs transcribed by RNA polymerase II (RNAPII), including small nuclear RNAs, enhancer RNAs, telomeric RNAs, viral RNAs, and protein-coding mRNAs. Integrator subunit 11 (INTS11) is the catalytic subunit that cleaves nascent RNAs, but, to date, mutations in this subunit have not been linked to human disease. Here, we...
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