부산대학교 도서관

Immunoprecipitation studies substantiated that the KLHL24:c.22A>T/RBX1/CUL3-ubiquitin-ligase complex leads to equally excessive ubiquitination levels of desmin as the KLHL24:c.1A>G/RBX1/CUL3-ubiquitin-ligase complex (Figure 1c). This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4 84 will likely cause the same effect on protein level and a similar potential lethal phenotype. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. [Extracted from the article]