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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12 总被引:9,自引:0,他引:9
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Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. 总被引:25,自引:0,他引:25
S Engelender Z Kaminsky X Guo A H Sharp R K Amaravi J J Kleiderlein R L Margolis J C Troncoso A A Lanahan P F Worley V L Dawson T M Dawson C A Ross 《Nature genetics》1999,22(1):110-114
Parkinson disease (PD) is a neurodegenerative disease characterized by tremor, bradykinesia, rigidity and postural instability. Post-mortem examination shows loss of neurons and Lewy bodies, which are cytoplasmic eosinophilic inclusions, in the substantia nigra and other brain regions. A few families have PD caused by mutations (A53T or A30P) in the gene SNCA (encoding alpha-synuclein). Alpha-synuclein is present in Lewy bodies of patients with sporadic PD, suggesting that alpha-synuclein may be involved in the pathogenesis of PD. It is unknown how alpha-synuclein contributes to the cellular and biochemical mechanisms of PD, and its normal functions and biochemical properties are poorly understood. To determine the protein-interaction partners of alpha-synuclein, we performed a yeast two-hybrid screen. We identified a novel interacting protein, which we term synphilin-1 (encoded by the gene SNCAIP). We found that alpha-synuclein interacts in vivo with synphilin-1 in neurons. Co-transfection of both proteins (but not control proteins) in HEK 293 cells yields cytoplasmic eosinophilic inclusions. 相似文献
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