Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
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 bra...
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Auteurs principaux: | Tianna Zhao, Esther De Graaff, Guido J Breedveld, Agnese Loda, Lies-Anne Severijnen, Cokkie H Wouters, Frans W Verheijen, Marieke C J Dekker, Pasquale Montagna, Rob Willemsen, Ben A Oostra, Vincenzo Bonifati |
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Format: | article |
Langue: | EN |
Publié: |
Public Library of Science (PLoS)
2011
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Accès en ligne: | https://doaj.org/article/79ff1dcbf60b48248d53e36d35d1a7d6 |
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