The most known are vimentin, synemin, nestin, syncoilin, skelemin,
plectin and desmin.
The N-terminus of Nesprin-3 binds to
plectin, a cytoskeletal crosslinker that establishes the connection to the intermediate filament system [5].
The genetic defects affect different proteins with essential roles in muscle development and function: defects of structural proteins (laminin-[alpha]2, collagen, integrin, and
plectin), defects of glycosylation (Walker-Warburg syndrome, muscle-eye brain disease, and Fukuyama CMD), proteins of the endoplasmic reticulum and nucleus (selenoprotein, selenocysteine insertion sequence-binding protein 2, laminin A/C), and mitochondrial membrane protein (choline kinase beta).
Kordeli, "Novel interactions of ankyrins-G at the costameres: the muscle-specific obscurin/titin-binding-related domain (OTBD) binds
plectin and filamin C," Experimental Cell Research, vol.
However, autoantibodies against various targets can be found, including desmosomal proteins Dsg1 and Dsg3, plakin family proteins (periplakin, envoplakin,
plectin, desmoplakin, and BP180), and the protease inhibitor alpha-2-macroglobulin-like antigen 1 (A2ML1) (3, 20, 23).
Although annexin A10 and
plectin 1 IHC are both positive in (>75%) PDACs, they are not used routinely.
Korkusuz et al., "Mutation in exon 1f of PLEC, leading to disruption of
plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy," American Journal of Human Genetics, vol.
The only mutation with high variant allele frequency involved the PLEC gene (R1801Q), encoding the cytoskeleton linker protein
plectin. PLEC mutation analysis confirmed that it is present at an early stage of AML-MSC expansion.
Lampel et al., "Identification of the cytolinker
plectin as a major early in vivo substrate for caspase 8 during CD95- and tumor necrosis factor receptor-mediated apoptosis," Molecular and Cellular Biology, vol.
Other molecules studied by [150] are plakins, which represent a family of molecules which form the links between filaments, desmosomes, and hemidesmosomes and
plectin is a cytolinker of this family.
the membrane protein [beta]-dystroglycan [38, 39] and to several other proteins such as
plectin [40], ankyrin [41] and the intermediate filament protein synemin [25].