1995 Fiscal Year Final Research Report Summary
MOLECULAR ANALYSIS OF PEROXISOME BIOGENESIS DISORDERS
| Project/Area Number |
06670782
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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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) |
1994 – 1995
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| Keywords | PEROXISOME / ZELLWEGER SYNDROME / MODEL MOUSE / CHINESE HAMSTER OVERY CELL |
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| Research Abstract |
(1) Mouse peroxisome assembly factor-1 (PAF-1) genomic DNA was isolated for the purpose of making a peroxisome deficient model mouse by gene targetting.
(2) Rat PAF-2 cDNA was isolated by functional complementation of peroxisome deficiency of a mutant chinese hamster overy (CHO) cell, using transient transfection assey. PAF-2 cDNA complemented the peroxisomes of the fibroblasts derived from patients with Zellweger syndrome. Furthermore, we cloned human PAF-2 cDNA,and demonstrated the mutations of PAF-2 in the Zellweger patients.
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[Publications] Yasuyuki Suzuki, Nobuyuki shimozawa, Shigehiro Yajima, Shunji Tomatsu, Naomi Kondo, Yukikatsu Nakada, Shinjiro Akaboshi, Mizue Iai, Yuzo Tanabe, Takashi Hashimoto, R.J.A.Wanders, R.B.H.Schutgens, H.W.Moser, Tadao Orii: "Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein : identification by means of complementation analysis" Am J Hum Genet. 54. 36-43 (1994)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Toshiro Tsukamoto, Satoshi Miura, Toshiki Nakai, Sadaki Yokota, Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Yukio Fujiki, Fumie Sakai, Akemi Bogaki, Hiroaki Yasumo, Takashi Osumi: "Peroxisome assembly factor-2 ; a putative ATPase cloned by functional complementation on a peroxisome-deficient mammarian cell mutant" Nature Genetics. 11. 395-401 (1995)
Description
「研究成果報告書概要(欧文)」より
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