Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.

@article{Najat2009CharacterizationOA,
  title={Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.},
  author={Dereen Najat and Thomas P. Garner and Thilo Hagen and Barry Shaw and Paul W. Sheppard and Alberto Falchetti and Francesca Marini and Maria Luisa Brandi and Jed E. Long and James R Cavey and M. S. Searle and Robert Layfield},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2009},
  volume={24 4},
  pages={632-42}
}
Mutations affecting the ubiquitin-associated (UBA) domain of sequestosome 1 (SQSTM1/p62) are commonly found in Paget's disease of bone (PDB) and impair SQSTM1's ability to bind ubiquitin, resulting in dysregulated NF-kappaB signaling. In contrast, non-UBA domain mutations are rarer, and little is known about how they manifest their effects. We present the first characterization at the molecular, cellular, and functional level of a non-UBA domain missense mutation (A381V) of SQSTM1. Direct… CONTINUE READING