Article
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
The Journal of biological chemistry - 1 May 2009
Gitcho Michael A, Strider Jeffrey, Carter Deborah, Taylor-Reinwald Lisa, Forman Mark S, Goate Alison M, Cairns Nigel J
Abstract excerpt
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...
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