Figure 2: PIEZO1 protein expression is defective in GLD patients. | Nature Communications

Figure 2: PIEZO1 protein expression is defective in GLD patients.

From: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Figure 2

Western blot analysis of PIEZO1 protein expression isolated from RBCs membranes of a healthy control subject and GLD patients. A second gel was run in parallel using GAPDH as loading control. The position of molecular mass markers (in kDa) is indicated to the left of the gel. GLD1:II.3, homozygous nonsense mutation p.E1630X; GLD2:II.2, compound heterozygous nonsense mutations p.E755X/p.Q2228X; GLD3:II.1, compound heterozygous splice site c.3796+1G>A and missense p.V2171F mutations; GLD3:I.1, heterozygous splice site c.3796+1G>A mutation; GLD3:I.2, heterozygous missense p.V2171F mutation.

Back to article page