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Title: Epsilon-Sarcoglycan gene and the molecular basis of myoclonuys dystonia syndrome
Keywords: Epsilon-sarcoglycan, myoclonus dystonia, MAP Kinase, D-site
Issue Date: 1-Mar-2007
Citation: YEO CHAO LIH, SEBASTIAN (2007-03-01). Epsilon-Sarcoglycan gene and the molecular basis of myoclonuys dystonia syndrome. ScholarBank@NUS Repository.
Abstract: Mutations in the gene encoding I?-sarcoglycan (SG) cause myoclonus dystonia syndrome (MDS). However, the precise role of this protein in the brain is not known. To understand the role that I?-SG plays in the disease, we sought to identify interacting partners for the cytosolic domain of I?-SG. Using proteomics/mass spectrometric approaches, we identified Erk2p as a putative interactor for the cytosolic domain of I?-SG.In addition, we also identified a putative D-site on the cytosolic domain of I?-SG which fits the consensus sequence (K/R)2-3X1-6-(L/I)-X-(L/I). D-sites are normally present in MAPK kinases to facilitate specific docking between MAPKs and their activating MEKs.Interestingly, abnormal inactive and active forms of Erk2 levels have been observed in various neuropathological conditions like schizophrenia and obsessive compulsive disorder. Thus, the putative interaction between Erk2p and the cytosolic domain of I?-SG may have new implications for MDS.
Appears in Collections:Master's Theses (Open)

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