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PKGBPhosphoglycerate Kinase of Spermatozoa
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Experiments have shown that incubation of cardiac fibroblasts in presence or absence of exogenous TGF[beta]3 revealed increased expression of plakoglobin gene (45) and overexpression of TGF[beta]3, caused by UTR mutations which might affect cell-to-cell junction stability leading to a final outcome as observed in ARVD/C which is caused by mutations in desmosomal genes.
For example, plakoglobin, when freed from desmosomal complexes, translocates to the nucleus where it competes and opposes the action of [beta]-catenin and downregulates the canonical Wnt/-[beta]-catenin signaling pathway.
McKay et al[53] report a homozygous 2-bp deletion in the plakoglobin gene in 19 individuals with Naxos disease or autosomal recessive arrhythmogenic right ventricular cardiomyopathy.
Pemphigus vulgaris is an autoimmune skin disease characterized by acantholytic skin lesions with autoantibodies directed against desmoglen, plakoglobins, and cadherin polypeptides of desmosomes and other cell-cell adhesion molecules.