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MOLECULAR ANALYSIS OF PEROXISOME BIOGENESIS DISORDERS

Research Project

Project/Area Number 06670782
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionGIFU UNIVERSITY

Principal Investigator

SHIMOZAWA Nobuyuki  GIFU UNIVERSITY,SCHOOL OF MEDICINE,DEPARTMENT OF PEDIATRICS,ASSISTANT PROFESSOR, 医学部附属病院, 講師 (00240797)

Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 1995: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1994: ¥900,000 (Direct Cost: ¥900,000)
KeywordsPEROXISOME / ZELLWEGER SYNDROME / MODEL MOUSE / CHINESE HAMSTER OVERY CELL / CHO細胞 / 神経細胞移動障害
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.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (38 results)

All Other

All Publications (38 results)

  • [Publications] M.Masuno,N.Shimozawa,et.al.: "Assignment of the human peroxisome assembly factor-1 gene(PXMP3)responsible for Zellweger syndrome to chrcmosome 8q21-1 by fluorescene in situ hybridization" Genomics. 20. 141-142 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] T.Tsukamoto,N.Shimozawa,et al.: "Peroxisome assembly factor-1:Nonsense mutation in a peroxisome-deficient CHO cell mutant and deletion analysis" Molecular and Cellular Biology. 14. 5458-5465 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Y.Suzuki,N.Shimozawa,et al.: "Novel subtype of peroxisomal acyl coA oxidase deficiency and bifunctional enzyme deficiency with defectable enzyme protein" Am J Hum Genet. 54. 36-43 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] A.Poulos,N.Shimozawa,et al.: "Peroxisome assembly defects:clinical,pathologic,and biochemical findings in two patients in a neoly idenfified complementation group" J.Pediatr.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 127. 596-599 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] T.Tsukamoto,N.Shimozawa,et al.: "Peroxisome assembly factor-2;a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant" Nature Genet. 11. 395-401 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] N.Shimozawa,et al.: "Correction by gene expression of bio chemical abnormalities in fibroblasts from Zellweger patients" Pediatr.Res. in press. (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 分担 下澤伸行 (中井利昭編): "遺伝子診断実践ガイド" 中外医学社, 485 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 分担 下澤伸行 (古庄敏行編): "臨床DNA診断法" 金原出版, 1134 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Toshifumi Aoyama, Kenji Tsushima, Masayoshi Souri, Takehiko Kamijo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii, Takashi Hashimoto: "Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase." Biochem Biophys Res Commun. 198. 1113-1118 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Mitsuo Masuno, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Tadao Orii, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Kiyoshi Imaizumi, Yoshikazu Kuroki: "Assignment of the human peroxisome assembly factor-1 gene (PXPM3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization." Genomics. 20. 141-142 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Atsushi Uchiyama, Yasuyuki Suzuki, Xiang-Qian Song, Toshiyuki Fukao, Atsushi Imamura, Shunji Tomatsu, Nobuyuki Shimozawa, Naomi Kondo, Tadao Orii: "Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy" Biochem Biophys Res Commun. 198. 632-636 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Tosiro Tsukamoto, Nobuyuki Shimozawa, Yukio Fujiki: "Peroxisome assembly factor 1 : Nonsense mutation in a peroxisome-deficient chinese hamster ovary cell mutant and deletion analysis." Mol Cell Biol. 14. 5458-5465 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yasuyuki Suzuki, Nobuyuki Shimozawa, Ichiro kawabata, Shigehiro Yajima, Kyoko Inoue, Yasushi Uchida, Kaoru Izai, Shunji Tomatsu, Naomi Kondo, Tadao Orii: "Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes" Brain & Development. 16. 27-31 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Jun-ichi Asano, Yasuyuki Suzuki, Shigehiro Yajima, Kyoko Inoue, Nobuyuki Shimozawa, Naomi Kondo, Masahiko Murase, Tadao Orii: "Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy" Brain & Development. 16. 454-458 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii: "Inborn Error of peroxisome biogenesis and brain malformation : Clinical and biochemical studies" Cong Anom. 35. 43-53 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] A.Poulos, J.Christodoulou, C.W.Chow, J.Goldblatt, B.C.Paton, T.Orii, Y.Suzuki, N.shimozawa: "Peroxisomal assembly defects : clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group" J Pediatr. 127. 596-599 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] X-Q.Song, T.Fukao, Y.Suzuki, A.Imamura, A.Uchiyama, N.Shimozawa, N.Kondo, Tadao Orii: "Identification of a novel frame shift mutation in a Japanese adrenoleukodystrophy patient" Hum Mol Genet. 4. 1093-1094 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nobue Shinnoh, Takeshi Yamada, Takeo Yoshimura, Hirokazu Furuya, Yoshihiro Yoshida, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii, Takuro Kobayashi: "Adrenoleukodystrophy : The restoration of peroxisomal beta-oxidation by transfection of normal cDNA" Biochem Biophys Res Commun. 210. 830-836 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [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
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yasuyuki Suzuki, Nobuyuki Shimozawa, Shigehiro Yajima, Kyoko Inoue, Tadao Orii, Naomi Kondo: "Incidence of peroxisomal disorders in Japan" Jpn J Hum Genet. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Seiji Yamaguchi, Nobuo Shimizu, Shigehiro Yajima, Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii: "A simple detection of peroxisomal disorders with defective beta-oxidation by a combination of analyzes of urinary organic acids and serum very-long chain fatty acids. Advances in Chemical" Diagnosis and Treatment of Metabolic Disorders. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yasuyuki Suzuki, Nobuyuki Shimozawa, Yukitoshi Takahashi, Atsushi Imamura, Naomi Kondo, Tadao Orii: "Peroxisomal disorderes ; clinical aspects" Ann N.Y.Acad Sci. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Nobuyuki Shimozawa, Yasuyuki Suzuki, Shunji Tomatsu, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Keiju Kamijo, Takashi Hashimoto, Naomi Kondo, Tadao Orii: "Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients" Pediatr Res. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yasuyuki Suzuki,Nobuyuki Shimozawa,et al.: "Inborn error of peroxisome biogenesis and brain malformation" Cong. Anom. 35. 43-53 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] A.Poulos,N.Shimozawa,et al.: "Peroxisome assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementatio group" J. Pediatr.127. 596-599 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] T.Tsukamoto,N.Shimozawa,et al.: "Peroxisome assembly faitor-2; a putative ATPase cloned by functional iomplementation on a peroxisome deficient mammalian cell mutant" Nature Genetics. 11. 395-401 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Y.suzuki,N.Shimozawa,et al.: "Incidence of peroxisomal disovders in Japan" Jpn J Hom Genet. (in press).

    • Related Report
      1995 Annual Research Report
  • [Publications] N.Shimozawa,et al.: "Correction by sene expression of biochemical-abnormalities in fibroblasts from Zellweger patients" Pediatr. Research. (in press).

    • Related Report
      1995 Annual Research Report
  • [Publications] 下澤伸行,他: "Zellweger症候群" 小児科診療. 65. 585-590 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 下澤伸行(分担),(中井利昭編): "遺伝子診断実践ガイド" 中外医学社, 485 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 下澤伸行(分担),(古庄敏行編): "臨床DNA診断法" 全原出版, 1134 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Mitsuo Masuno,Nobuyuki Shimozawa et ol.: "Assigninent of the human peroxisome assembly factor-1 gene(PXMP3) responsible for Zellweger Jyndrome to Chromosome 8q211 by fluorescence in s hybridization" GENOMICS. 20. 141-142 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Toshiro Tsukamoto,Nobuyuki Shimozawa,et al: "Peroxisome assembly factor-1:Nonsense mufation in a pevoxisome-deficient chinese lnmsfer ovary cell mutant and deletion analysis" Molecular and Cellular Biolgy. 14. 5458-5465 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Yasuyuki Suzuki,Nobuyuki Shimozawa,et al: "Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with defectable enzyme Protein:Ldenfification by mems of complemenfation analysis" Am.J.Hom.Genet. 54. 36-43 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 下沢伸行: "ペルオキシソーム病の遺伝子解析-Zellweger症候群と副腎白質ジストフィー-" 小児科臨床. 47. 2427-2434 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 編集代表 中井利昭: "遺伝子診断実践ガイド" 中外医学社, 485 (1995)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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