FIGURE

Fig. 3

ID

ZDB-FIG-210527-3

Publication

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

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Fig. 3

Missense variants in DHX30 initiate the formation of cytoplasmic aggregates and impair global translation. Puromycin incorporation assay in U2OS cells expressing DHX30-GFP fusion proteins (green). Translation was monitored by staining against puromycin (red), SGs were detected by ATXN2 (magenta) and nuclei via DAPI staining (blue). Arrows indicate transfected cells. Note the correlation between formation of clusters and lack of puromycin staining. Scale bars indicate 10 μm

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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