FIGURE

Fig. 6

ID

ZDB-FIG-210527-6

Publication

Mannucci et al., 2021 - Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

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Fig. 6

Analyses of the nature of missense variants within the helicase core motifs (HCM). a RNA unwinding activity of purified DHX30 R493H, H562R, and R785C mutants was analyzed upon addition of DHX30 WT protein. Increasing amounts of mutant proteins were incubated with 20 ng of WT protein and assayed for their ability to unwind a radiolabeled RNA duplex in the presence of ATP. b Assessment of embryonic development after co-injection of DHX30 R493H and R785C with DHX30 WT cDNA in a zebrafish model. Bar graph indicating the percentage of cmcl2-GFP positive zebrafish embryos 4–7 days postfertilization (dpf). The presented data are derived from three independent studies. The total number of embryos assessed are 58, 43, and 51 for WT, R493H+WT, and R785C+WT, respectively. ****: significantly different from WT (****p< 0.0001; χ² test)

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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