Plectin 1c (P1c), an intermediate filament-associated cytolinker protein, antagonizes the microtubule (MT)-stabilizing function of MT-associated proteins. Lack of P1c in keratinocytes leads to the stabilization of MTs and alters basic cellular features and functions, including cell shape, polarized migration, metabolism, and mitotic spindle formation.
Because severe G6PD deficiency can be a phenocopy of chronic granulomatous disease with regard to the cellular and clinical phenotype, careful evaluation of neutrophil function seems mandatory in these patients to decide on appropriate anti-infective preventive measures. Determining the level of G6PD enzyme activity should be followed by analysis of reactive oxygen species production and NET formation to decide on required antibiotic and antimycotic prophylaxis.
P1f, a specific isoform of the cytolinker protein plectin, bridges AChRs to the desmin IF network of myofibers via direct interaction with the AChR-scaffolding protein rapsyn. P1f-mediated IF linkage is crucial for the formation and maintenance of AChR clusters, postsynaptic organization of the NMJ, and body locomotion.
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