Reference : Screening for mutations in synaptotagmin XI in Parkinson's disease.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17142
Screening for mutations in synaptotagmin XI in Parkinson's disease.
English
Glass, A. S. [> >]
Huynh, D. P. [> >]
Franck, Th [> >]
Woitalla, D. [> >]
Muller, Th [> >]
Pulst, S. M. [> >]
Berg, D. [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Riess, O. [> >]
2004
Journal of neural transmission. Supplementum
68
21-8
Yes (verified by ORBilu)
0303-6995
Austria
[en] Aged ; Amino Acid Sequence/genetics ; Base Sequence/genetics ; Calcium-Binding Proteins/genetics ; Female ; Genetic Testing/methods ; Humans ; Male ; Membrane Glycoproteins/genetics ; Middle Aged ; Molecular Sequence Data ; Mutation/genetics ; Nerve Tissue Proteins/genetics ; Parkinson Disease/genetics ; Polymorphism, Single Nucleotide/genetics ; Sequence Analysis, DNA/methods ; Synaptotagmins
[en] Parkinson's disease (PD) is characterized by selective degeneration of neurons in the substantia nigra and subsequent dysfunction of dopaminergic neurotransmission. Genes identified in familial forms of PD encode proteins that are linked to the ubiquitin-proteasome system indicating the pathogenic relevance of disturbed protein degradation in PD. Some of them, i.e. alpha-synuclein, parkin and synphilin-1, have been implicated in presynaptic neurotransmission based on their localization in synaptic vesicles. Synaptotagmin XI is linked to the pathogenesis of PD based on its identification as a substrate of the ubiquitin-E3-ligase parkin. Moreover synaptotagmin XI is involved in the maintainance of synaptic function and represents a component of Lewy bodies (LB) in brains of PD patients. Therefore, we performed a detailed mutation analysis of the synaptotagmin XI gene in a large sample of 393 familial and sporadic PD patients. We did not find any disease causing mutations arguing against a major role of mutations in the synaptotagmin XI gene in the pathogenesis of PD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17142

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