FIGURE

Fig. 5

ID

ZDB-FIG-230627-6

Publication

Flex et al., 2022 - Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

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Fig. 5

Disease-causing KIF5B mutations affect Golgi network distribution and morphology. Representative confocal images reporting the altered morphology, distribution of Golgi cisternae. Immunofluorescence analysis, performed with anti GM130 (Golgi marker, green) and DAPI (blue), shows Golgi stacks clustered in the perinuclear region in control cells, whereas a scattered pattern of cisternae suggestive of Golgi fragmentation were observed in patients? cells, with particular evidence in fibroblasts endogenously expressing the KIF5B^Asn255del and KIF5^Leu537Pro variants. Scale bar is 5 ?m.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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