Article
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.
Neurobiology of aging - 1 Nov 2012
Miller Jack W, Smith Bradley N, Topp Simon D, Al-Chalabi Ammar, Shaw Christopher E, Vance Caroline
Abstract excerpt
Mutations in the valosin-containing-protein (VCP) gene are associated with the multidisorder disease, inclusion body myopathy with Pagets and associated frontotemporal dementia. This disease is characterized pathologically by large ubiquitinated, TAR DNA Binding Protein 43 (TDP-43) positive inclusions. These inclusions are also a common feature in neurological diseases including amyotrophic lateral sclerosis...
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