A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle‐specific intermediate filament desmin
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DOI: 10.1111/bjd.16832
Abstract: Desmoplakin (DSP) is a cytolinker of the plakin family. It mediates the connection of intermediate filaments (IFs) to desmosomes, intercellular adhesion junctions. The carboxyl (C)-terminal tail of DSP binds to IFs, while its amino-terminal part… read more here.
Keywords: gene linked; recessive mutation; linked cardiomyopathy; mutation dsp ... See more keywords