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. 2016 Oct 13;99(5):1086–1105. doi: 10.1016/j.ajhg.2016.09.005

Figure 4.

Figure 4

Affected Individuals with PYROXD1 Variants Show Reduced or Near-Normal Levels of PYROXD1

(A) Western blot of skin fibroblasts from two controls (42 and 46 years of age) and affected siblings from family A (29 and 26 years) and family C (6 and 8 years). HEK293 cells transfected with a plasmid encoding human PYROXD1 establishes the apparent molecular weight of PYROXD1 at ∼60 kDa (UT, untransfected; T, transfected). A non-specific (NS) band is indicated by an arrow. Levels of PYROXD1 are reduced in family A but not different to control levels in family C.

(B) Western blot of A-II1 triceps (11 years) (Abcam cat# ab122458; RRID: AB_11129858) shows reduced levels of PYROXD1 relative to three age-matched control biopsy specimens (quadriceps 11 years, 10 years, 15 years). Loading controls: β-tubulin and GAPDH control for overall protein content, with one cytoskeletal and one cytoplasmic marker; emerin controls for the number of nuclei; skeletal α-actinin controls for myofibrillar content.

(C) Western blot of myoblasts extracts from control subject and B-II3. Extracts from COS-1 cells transfected with the 500 aa human PYROXD1 cDNA (GenBank: NM_024854.3) was used as size control.