Article
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.
Molecular biology of the cell - 1 May 2007
Bakowska Joanna C, Jupille Henri, Fatheddin Parvin, Puertollano Rosa, Blackstone Craig
Abstract excerpt
Troyer syndrome is an autosomal recessive hereditary spastic paraplegia caused by mutation in the spartin (SPG20) gene, which encodes a widely expressed protein of unknown function. This mutation results in premature protein truncation and thus might signify a loss-of-function disease mechanism. In this study, we have found that spartin is mono-ubiquitinated and functions in degradation of the epidermal growth...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
