FIGURE

Figure 4

ID

ZDB-FIG-221226-192

Publication

Vaz et al., 2022 - A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

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Figure 4

PDK1^G380D causes a reduction in phosphorylated PDH-E1α. Phosphorylated PDH-E1α (PDH-E1α pSer232) is reduced in protein extracts from our patient fibroblasts when compared to three controls, which is consistent with the findings in zebrafish. The quantification was normalized to total PDHA1.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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