VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
Ana T MarcosElena Martín-DoncelPatricia Morejon-GarciaÍñigo Marcos-AlcaldePaulino Gómez-PuertasMaría Segura-PuimedonLluis ArmengolJosé M Navarro-PandoPedro A LazoPublished in: Annals of clinical and translational neurology (2020)
The VRK1(Y213H) mutant protein alters the activation loop, impairs the kinase activity of VRK1 causing a functional insufficiency that impairs the formation of Cajal bodies assembled on coilin, a protein that regulates SMN1 and Cajal body formation.