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Valtorta et al., 2026 - Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
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Fig. 6

Analysis of BRAT1 and Integrator subunit protein levels in BRAT1-mutated patient-derived cells. A Immunoblot analysis of BRAT1, INTS11, INTS9, and INTS4 in fibroblasts and lymphoblastoid cell lines (LCLs) derived from the healthy control, unaffected parents and BRAT1-mutated patients. β-actin or α-tubulin was used as a loading control. A non-specific band is indicated by an asterisk (*). B Quantification of protein levels presented in (A) from at least three independent experiments. Data are shown as the mean ± SEM. 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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