Article
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Brain : a journal of neurology - 1 Oct 2010
Clemen Christoph S, Tangavelou Karthikeyan, Strucksberg Karl-Heinz, Just Steffen, Gaertner Linda, Regus-Leidig Hanna, Stumpf Maria, Reimann Jens, Coras Roland, Morgan Reginald O, Fernandez Maria-Pilar, Hofmann Andreas, Müller Stefan, Schoser Benedikt, Hanisch Franz-Georg, Rottbauer Wolfgang, Blümcke Ingmar, von Hörsten Stephan, Eichinger Ludwig, Schröder Rolf
Abstract excerpt
Mutations of the human valosin-containing protein gene cause autosomal-dominant inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. We identified strumpellin as a novel valosin-containing protein binding partner. Strumpellin mutations have been shown to caus...
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