2012 Fiscal Year Final Research Report
The study of novel GNE-binding proteins
| Project/Area Number |
23890165
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Oita University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2012
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| Keywords | GNE / 縁取り空胞を伴う遠位型ミオパチー / 酵母ツーハイブリッド法 |
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| Research Abstract |
Distal myopathy with rimmed vacuoles (DMRV), an early adult-onset progressive myopathy, is caused by mutations in the GNE gene. The pathomechanism that impairment of GNE expressed ubiquitously in vivo leads to myopathy remains to be elucidated. Yeast two-hybrid experiments with recombinant GNE proteins as the bait and with cDNA library from the human skeletal muscle as the prey screened 18 candidate proteins. These candidate proteins include a protein believed to cause hereditary myopathy and a protein expressed specifically in the myofiber.Double-labeled immunofluorescence showed co-localization of GNE and a candidate protein in the myofiber of the mouse skeletal muscle. These results suggest that GNE have a specific role in the muscle by interacting with the GNE-binding protein expressed selectively in the myofiber. Future study of the interaction between GNE and these candidate proteins will contribute to elucidate the specific function of GNE in the muscle.
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Research Products
(3 results)
