Journal: Communications Medicine
Article Title: The treatment of primary CoQ deficiency requires the targeting of multiple pathogenic mechanisms
doi: 10.1038/s43856-025-01000-8
Figure Lengend Snippet: Representative image of Western blot of SQOR and the quantitation of the protein bands ( a ), and relative mRNA levels for Sqor ( b ) in the liver. c Representative image of Western blot of Eif2ak2 and the quantitation of the protein bands in the liver. Relative mRNA levels of the genes Cmpk2 ( d ), Mthfd2l ( e ), Psat1 ( f ) and Eif2ak2 ( g ) in liver. Data are expressed as mean ± SD (one-way ANOVA with a Tukey’s post hoc test; n = 5 for each group). Representative images of Western blots of SQOR ( h ), CBS ( i ), PSAT1 ( j ) and EIF2AK2 ( k ), and the quantitation of the protein bands in human skin fibroblast from control and patient 1 (P1). Relative mRNA levels of the genes CMPK2 ( l ), MTHFD2L ( m ), PSAT1 ( n ) and EIF2AK2 ( o ) in human skin fibroblast from control and patient 1 (P1). Representative images of Western blots of SQOR ( p ), CBS ( q ), PSAT1 ( r ) and EIF2AK2 ( s ), and the quantitation of the protein bands in human skin fibroblast from control and patient 2 (P2). Relative mRNA levels of the genes CMPK2 ( t ), MTHFD2L ( u ), PSAT1 ( v ) and EIF2AK2 ( w ) in in human skin fibroblast from control and patient 2 (P2). Data are expressed as mean ± SD (one-way ANOVA with a Tukey’s post hoc test; n = 3 for each group). CBS cystathionine β-synthase, CMPK2 cytidine monophosphate kinase 2, EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2, MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP + Dependent) 2-Like, PSAT1 phosphoserine aminotransferase 1, SQOR sulfide:quinone oxidoreductase. Original western-blot membranes corresponding to this figure are provided in Figs. S8 and Fig S9.
Article Snippet: The following primary antibodies were used: anti-COQ4 (Proteintech, 16654-1-AP), anti-COQ5 (Proteintech, 17453-AP), anti-COQ7 (Proteintech, 15083-1-AP), anti-PRODH (Cell Signaling, #22980), anti- SQRDL (Proteintech, 17256-1-AP), anti-CBS (Proteintech, 14787-1-AP), anti-EIF2AK2 (Proteintech, 18244-1-AP), anti-PSAT1 (Proteintech, 10501-1-AP), anti-VDAC1 (Abcam, ab14734) and anti-ACTIN (Invitrogen, #MA5-15739-HRP).
Techniques: Western Blot, Quantitation Assay, Control