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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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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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 / 脱パルミトイル化酵素 / リポフスチン / 脱パルミトイル化 |
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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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Report
(4 results)
Research Products
(6 results)
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[Journal Article] The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.2017
Author(s)
Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y.
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Journal Title
Molecular Genetics and Metabolism
Volume: 120
Issue: 3
Pages: 173-179
DOI
Related Report
Peer Reviewed
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