Figure 1 | Genetics in Medicine

Figure 1

From: Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

Figure 1

Functional analysis of p.Asn211Ser CUL4B variant. (a) Reduced protein level of CUL4B in patient lymphoblasts with p.Asn211Ser CUL4B variant compared with control lymphoblasts (indicated by the arrow). (b) Reduced stability of p.Asn211Ser CUL4B variant. (c) Formation of ubiquitin ligase complex by p.Asn211Ser CUL4B variant. The arrow indicates reduced expression of p.Asn211Ser CUL4B compared with wild-type CUL4B. CHX, cycloheximide (25 ÎĽg/ml); CSN5, COP9 signalosome subunit 5; CUL4ANEDD8, NEDD8-modified CUL4A; CUL4BNEDD8, NEDD8-modified CUL4B; DDB1, damage-specific DNA binding protein 1; IP, immunoprecipitation; ROC1, regulator of cullins-1.

Back to article page