FIGURE

Fig. 3

ID

ZDB-FIG-240604-9

Publication

De Pace et al., 2023 - Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

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Fig. 3

Characteristics of wild-type and variant BORCS8 alleles. (A) Amino acid sequence of wild-type BORCS8 indicating the positions of the variants. (B) Amino acid conservation of BORCS8 from different species calculated on the ConSeq server using default search values. (C) Structure of BORCS8 extracted from the whole BORC complex predicted by AlphaFold Multimer. (D) Structure of the BORC complex predicted by AlphaFold Multimer. (E) Close-up view of the positions of the variants. (F) Skin fibroblast cultures from two unrelated controls [a healthy individual (Control 1, 85E0344) and an SPG50 patient (Control 2, 87RD39)],, the unaffected Family FI mother and her affected children were analysed by SDS-PAGE and immunoblotting for the endogenous BORCS5 and BORCS7 subunits of BORC. β-Actin was used as loading control. The positions of molecular mass markers (in kDa) are indicated on the left. (G) Quantification of endogenous BORCS5 and BORCS7 levels from at least four independent experiments such as that shown in F. Values are the mean ± standard deviation (SD) from the number of data-points shown on the figure. Statistical significance was calculated by one-way ANOVA followed by multiple comparisons using Dunnett’s test. ****P < 0.0001.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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