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Fig. 4

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Publication: Valtorta et al., 2026 - Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
All Figures: Figures for Valtorta et al., 2026

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Fig. 4

Impaired 3′-end processing of U1 snRNAs in INTS11-mutated patient-derived cells. A Schematic representation of the RT-qPCR approach used to detect unprocessed U1 snRNAs transcribed from the RNU1-1 gene. The diagram indicates the positions of RT-qPCR primers (arrows), the canonical Integrator-mediated cleavage site (scissors), and the downstream 3′ box. B RT-qPCR analysis of unprocessed RNU1-1 transcripts in control, parent and INTS11-mutated patient-derived fibroblasts (left) and LCLs (right). Data are presented as mean ± SEM from three independent experiments (N = 3). Statistical significance was determined using a two-tailed Student’s t-test (ns – not significant, *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001)

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