Reference : Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17240
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
English
Soehn, Anne S. [> >]
Franck, Thomas [> >]
Biskup, Saskia [> >]
Giaime, Emilie [> >]
Melle, Christian [> >]
Rott, Ruth [> >]
Cebo, Daniel [> >]
Kalbacher, Hubert [> >]
Ott, Erwin [> >]
Pahnke, Jens [> >]
Meitinger, Thomas [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Gasser, Thomas [> >]
Berg, Daniela [> >]
von Eggeling, Ferdinand [> >]
Engelender, Simone [> >]
da Costa, Cristine Alves [> >]
Riess, Olaf [> >]
2010
Neurogenetics
11
2
203-15
Yes (verified by ORBilu)
1364-6745
1364-6753
United States
[en] Amino Acid Sequence ; Animals ; Antigens, Neoplasm/genetics/metabolism ; Carrier Proteins/genetics/metabolism ; Cell Line ; DNA Mutational Analysis ; Humans ; Lewy Bodies/metabolism ; Male ; Mice ; Mice, Transgenic ; Middle Aged ; Molecular Sequence Data ; Mutation ; Nerve Tissue Proteins/genetics/metabolism ; Nuclear Proteins/genetics/metabolism ; Parkinson Disease/genetics/metabolism ; Sequence Alignment ; Two-Hybrid System Techniques
[en] Parkinson's disease (PD) is a common neurodegenerative disorder characterized by the loss of dopaminergic neurons and the presence of Lewy bodies. Alpha-synuclein and its interactor synphilin-1 are major components of these inclusions. Rare mutations in the alpha-synuclein and synphilin-1 genes have been implicated in the pathogenesis of PD; however, the normal function of these proteins is far from being completely elucidated. We, thus, searched for novel synphilin-1-interacting proteins and deciphered periphilin as new interactor. Periphilin isoforms are involved in multiple cellular functions in vivo, and the protein is broadly expressed during embryogenesis and in the adult brain. We show that periphilin displays an overlapping expression pattern with synphilin-1 in cellular and animal models and in Lewy bodies of PD patients. Functional studies demonstrate that periphilin, as previously shown for synphilin-1, displays an antiapoptotic function by reducing caspase-3 activity. Searching for mutations in the periphilin gene, we detected a K69E substitution in two patients of a PD family. Taken together, these findings support for the first time an involvement of periphilin in PD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17240
10.1007/s10048-009-0215-z

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