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Additionally, we identify the FHA domain of SNIP1 as a reader of P-SF3B1, guiding the recruitment and assembly of the RES complex during spliceosome activation, and show that mutations in the FHA domain, including the neurodevelopmental disorder-linked E366G variant, impair this interaction, resulting in defects in splicing and cellular proliferation

Two robust regression LME models (package(nlme)(Pinheiro et al., 2023)) were estimated for each brain region to investigate the relationship between metabolite (GSH or GABA+) levels and diagnosis group, age, and sex, accounting for the random intercept of each participant

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doi: 10.1172/JCI132185 28 NaviauxRKNaviauxJCLiKBrightATAlaynickWAWangLet al