1997 Fiscal Year Final Research Report Summary
MOLECULAR ANALYSIS OF PEROXISOME BIOGENESIS DISORDERS
| 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
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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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Research Products
(12 results)
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[Publications] Fukuda S., Shimozawa N., Suzuki Y., Zhang Z., Tomatsu S., Tsukamoto T., Hashiguchi N., Osumi T., Masuno M., Imaizumi K., Kuroki Y., Fujiki Y., Orii T., Kondo N.: "Human peroxisome assembly factor-2 (human PAF-2) : a gene responsible for group C peroxisome biogenesis disorder in humans" Am.J.Hum.Genet.59. 1210-1220 (1996)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Suzuki Y., Jiang L.L., Souri M., Miyazawa S., Fukuda S., Zhang Z., Une M., Shimozawa N., Kondo N., Orii T., Hashimoto T.: "D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency : a newly identified peroxisomal disorder" Am J Hum Genet. 61. 1153-1162 (1997)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Shimozawa N., Suzuki Y., Zhang Z., Imamura A,Tsukamoto T., Osumi T,Tateishi K., Okumoto K., Fujiki Y., Orii T., Barth PG,Wanders RJA,Kondo N.: "Peroxisome biogenesis disorders : Identification of a new complementation group distinct from peroxisome deficient CHO mutants and not complemented by human PEX 13" Biochem.Biophys.Res.Commun.243. 368-371 (1998)
Description
「研究成果報告書概要(欧文)」より
