Article (Scientific journals)
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
Soehn, Anne S.; Franck, Thomas; Biskup, Saskia et al.
2010In Neurogenetics, 11 (2), p. 203-15
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Keywords :
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
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
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 ;  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
More authors (8 more) Less
Language :
English
Title :
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
Publication date :
2010
Journal title :
Neurogenetics
ISSN :
1364-6753
Publisher :
Springer, Germany
Volume :
11
Issue :
2
Pages :
203-15
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
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