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 brain dopaminergic neurons, the same which are lost in Parkinson's disease. The protein(s) encoded by FBXO7 remain very poorly characterized. Here, we show that two protein isoforms are expressed from the FBXO7 gene in normal human cells. The isoform 1 is more abundant, particularly in primary skin fib... Mehr ...

Verfasser: Zhao, T. (Tianna)
Graaff, E. (Esther) de
Breedveld, G.J. (Guido)
Loda, A. (Agnese)
Severijnen, E.A.W.F.M. (Lies-Anne)
Wouters, C.H. (Cokkie)
Verheijen, F.W. (Frans)
Dekker, M.C.J. (Marieke)
Montagna, P. (Pasquale)
Willemsen, R. (Rob)
Oostra, B.A. (Ben)
Bonifati, V. (Vincenzo)
Dokumenttyp: Artikel
Erscheinungsdatum: 2011
Schlagwörter: F box only protein 7 gene / F box protein / F box protein 7 / F box protein 7 isoform 1 / F box protein 7 isoform 2 / Italy / Netherlands / Parkinsonian Pyramidal Syndrome / amino terminal sequence / animal cell / brain cortex / cell nucleus / cell strain HEK293 / cellular distribution / cerebellum / clinical article / controlled study / cytoplasm / degenerative disease / gene / globus pallidus / hippocampus / human / human cell / human tissue / missense mutation / mouse / nonhuman / nucleotide sequence / profilin / protein expression / protein stability / skin fibroblast / substantia nigra / unclassified drug
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28786208
Datenquelle: BASE; Originalkatalog
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Link(s) : http://repub.eur.nl/pub/23239