VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.

@article{Gitcho2009VCPMC,
  title={VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.},
  author={Michael A. Gitcho and Jeffrey Strider and Deborah Faye Carter and Lisa Taylor-Reinwald and Mark S. Forman and Alison M. Goate and Nigel J. Cairns},
  journal={The Journal of biological chemistry},
  year={2009},
  volume={284 18},
  pages={12384-98}
}
Frontotemporal lobar degeneration (FTLD) with inclusion body myopathy and Paget disease of bone is a rare, autosomal dominant disorder caused by mutations in the VCP (valosin-containing protein) gene. The disease is characterized neuropathologically by frontal and temporal lobar atrophy, neuron loss and gliosis, and ubiquitin-positive inclusions (FTLD-U), which are distinct from those seen in other sporadic and familial FTLD-U entities. The major component of the ubiquitinated inclusions of… CONTINUE READING