Reference : A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinso...
Scientific journals : Article
Life sciences : Genetics & genetic processes
A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients.
Wahl, Claudia [> >]
Kautzmann, Sabine [> >]
Krebiehl, Guido [> >]
Strauss, Karsten [> >]
Woitalla, Dirk [> >]
Muller, Thomas [> >]
Bauer, Peter [> >]
Riess, Olaf [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Journal of Neural Transmission
Yes (verified by ORBilu)
[en] Adenosine Triphosphatases/genetics ; Aged ; Alleles ; Carrier Proteins/genetics ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; DNA, Complementary/biosynthesis/genetics ; Female ; Genotype ; Germany/epidemiology ; Humans ; Introns/genetics ; Male ; Middle Aged ; Nerve Tissue Proteins/genetics ; Parkinson Disease/epidemiology/genetics ; Polymorphism, Restriction Fragment Length ; Proteasome Endopeptidase Complex/genetics ; Protein Denaturation ; RNA, Messenger/biosynthesis/genetics ; Reverse Transcriptase Polymerase Chain Reaction
[en] Dysfunction of proteasomal protein degradation is involved in neurodegeneration in Parkinson's disease (PD). Recently we identified the regulatory proteasomal subunit S6 ATPase as a novel interactor of synphilin-1, which is a substrate of the ubiquitin-ligase Parkin (PARK2) and an interacting protein of alpha-synuclein (PARK1). To further investigate a potential role in the pathogenesis of PD, we performed a detailed mutation analysis of the S6 ATPase gene in a large sample of 486 German sporadic and familial PD patients. Direct sequencing revealed two novel intronic variants. An insertion/deletion variant in intron 5 of the S6 ATPase gene was more frequent in patients compared to controls. Moreover, this variant was significantly more frequent in early-onset compared to late-onset PD patients. The identification of a genetic link between a regulatory proteasomal subunit and PD further underscores the relevance of disturbed protein degradation in PD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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