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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: Phenotypic and molecular insights into CASK-related disorders in males

Figure 5

Expression of CASK protein. A. Domain structure of the longest CASK isoform [GenBank:NP_003679.2]. Domains are represented by boxes in black and different shades of grey. The number on the left and right indicates the first and last amino acid residue of this CASK isoform, respectively. Black bars below the domain structure show the two regions used as immunogen to produce anti-CASK1 and anti-CASK2 antibodies. CaMK: calmodulin-dependent kinase-like domain; L27: LIN-2 and LIN-7 interaction; PDZ: PSD-95-Dlg-ZO1; SH3: Src homologous 3; 4.1: protein 4.1 interaction; GK: guanylate kinase. B. Total cell lysates of lymphoblastoid cells derived from patient 8 (P8) and two healthy male individuals (C5 and C6) were subjected to SDS-PAGE and immunoblotting. The amount of total CASK protein was monitored by using the anti-CASK1 antibody (Millipore) (upper panel). Anti-α-tubulin antibody was used to control for equal loading (lower panel). C. Total fibroblast cell lysates from patients 1, 2 and 5 (P1, P2 and P5) and two healthy male individuals (C3 and C4) were analysed by immunoblotting using the anti-CASK1 antibody (Millipore) (middle panel) and the anti-CASK2 antibody (Cell Signaling) (upper panel). Equal loading was controlled by an anti-α-tubulin antibody (lower panel).

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