2016 Fiscal Year Final Research Report
The pathological analysis of infantile neuronal ceroid lipofuscinosis caused by mutations of palmitoyl-protein thioesterase 1 gene
| Project/Area Number |
26870831
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Neurology
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| Research Institution | Tottori University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | ライソゾーム病 / 神経セロイドリポフスチン症 / パルミトイル化 |
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| Outline of Final Research Achievements |
Infantile neuronal ceroid lipofuscinosis (CLN1) is caused by mutations of palmitoyl-protein thioesterase 1 gene (PPT1). The molecular mechanisms have not been elucidated. There is no an effective therapeutic approach. I developed CLN1 cell lines expressing mutated PPT1. ABE assay and LC/MS/MS identified two highly palmitoylated proteins in CLN1 cells. Their functions are related with dementia and mortar neuron degeneration. It was suggested that they would be new therapeutic targets.
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| Free Research Field |
神経科学
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