Article
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
PloS one - 11 Feb 2011
Zhao Tianna, De Graaff Esther, Breedveld Guido J, Loda Agnese, Severijnen Lies-Anne, Wouters Cokkie H, Verheijen Frans W, Dekker Marieke C J, Montagna Pasquale, Willemsen Rob, Oostra Ben A, Bonifati Vincenzo
Abstract excerpt
Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive parkinsonism and pyramidal disturbances. Understanding the PARK15 pathogenesis might thus provide clues on the mechanisms of maintenance of brain dopaminergic neurons, the same which are lost in Parkinson's disease. The protein(s) encoded by FBXO7 remain very...
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