Article
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.
Genome medicine - 12 May 2026
Valtorta Beatrice, Polackova Zuzana, Maroofian Reza, Herold Aveeva, Karagoz Irem, Zaki Maha S, Bronisova Denisa, Liao Meijiang, Zamani Mina, Scardamaglia Annarita, Collomb Nine, Lopez-Jimenez Lidia, Barrero Maria J, Schröter Julian, Syrbe Steffen, Vallanger Marion Heidi, Houge Sofia Douzgou, Alanay Yasemin, Akgun-Dogan Ozlem, Vogt Julie, Muriello Michael, Hendriks Yvonne M C, Afenjar Alexandra, Damseh Nadirah, Kaiyrzhanov Rauan, Niceta Marcello, Tartaglia Marco, Kurian Manju A, Di Donato Nataliya, Yoon Grace, Houlden Henry, Samarut Éric, Hanzlikova Hana
Abstract excerpt
BACKGROUND: Disrupted RNA processing is increasingly recognized as a key driver of severe neurodevelopmental disorders. Variants in the Integrator catalytic subunit INTS11 and its binding partner BRAT1 lead to clinically overlapping phenotypes, yet only the molecular function of INTS11 has been relatively well characterized. In contrast, the mechanistic contribution of BRAT1 to RNA metabolism and disease has...
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