| Project/Area Number |
08670870
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | GIFU UNIVERSITY |
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Principal Investigator |
SHIMOZAWA Nobuyuki GIFU UNIVERSITY,SCHOOL OF MEDICINE,DEPARTMENT OF PEDIATRICS,ASSISTANT PROFESSOR, 医学部附属病院, 講師 (00240797)
|
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| Project Period (FY) |
1996 – 1997
|
| Project Status |
Completed (Fiscal Year 1997)
|
| Budget Amount *help |
¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 1997: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1996: ¥900,000 (Direct Cost: ¥900,000)
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| Keywords | PEROXISOME / ZELLWEGER SYNDROME / CHO CELL MUTANTS / YEAST / TEMPERATURE SENSITIVE |
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| Research Abstract |
(1) We cloned full-length human peroxisome assembly factor-2 (PAF-2) cDNA that morphologically and biochemically restores peroxisomes of group C Zellweger fibroblasts and identified two pathologic mutations in the PAF-2 gene in Zellweger patients. (2) We isolated twelve complementation groups of peroxisome biogenesis disorders (PBD), and eight complementation groups of peroxisome deficient CHO cell mutants. By transient transfection assey using these CHO mutants, newly pathogenic genes (PEX12 and 1) were isolated in two complementation groups of PBD (group 3 and E).
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