Search results for "Plectin"
showing 4 items of 4 documents
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome
2020
Trans-sarcolemmal proteins situated central to the subsarcolemmal region
2002
Trans-sarcolemmal proteins located inside, within, and outside of the muscle fibre plasma membrane fall into two categories, the dystrophin-glycoprotein complex (DGC) and non-DGC-related proteins, e.g. dysferlin, caveolin, dystrobrevins and syntrophins. Mutational defects are responsible for their immunohistochemical absence or reduction giving rise to certain muscular dystrophies. In other neuromuscular disorders, i.e. inflammatory, metabolic, and neurogenic processes, transarcolemmal proteins are well preserved. Unlike desmin and plectin, which form a honeycomb-type network across the muscle fibre and a subsarcolemmal layer, trans-sarcolemmal proteins are not expressed central to the subs…
Induction of rapid and reversible cytokeratin filament network remodeling by inhibition of tyrosine phosphatases
2002
The cytokeratin filament network is intrinsically dynamic, continuously exchanging subunits over its entire surface, while conferring structural stability on epithelial cells. However, it is not known how cytokeratin filaments are remodeled in situations where the network is temporarily and spatially restricted. Using the tyrosine phosphatase inhibitor orthovanadate we observed rapid and reversible restructuring in living cells, which may provide the basis for such dynamics. By examining cells stably expressing fluorescent cytokeratin chimeras, we found that cytokeratin filaments were broken down and then formed into granular aggregates within a few minutes of orthovanadate addition. After …
Congenital myopathy and epidermolysis bullosa due to PLEC variant
2021
Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.