ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

过氧化物酶体生物发生紊乱中温度敏感的分析

• 批准号: 15591100
• 负责人: SHIMOZAWA Nobuyuki
• 金额: $ 2.24万
• 依托单位: GIFU UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2003
• 资助国家: 日本
• 起止时间: 2003 至 2004
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15591100/
• 关键词: PEROXISOME; TEMPERATURE SENSITIVE; PEROXISOMAL BIOGENESIS DISORDERS; INTRACELLULAR PROTEIN SORTING; THREE-DEMENTIONAL STRUCTURE; タンパク質細胞内輸送

(1)We identified 31 Japanese patients with peroxisome biogenesis disorders (PBDs) and a common mutation arosed once on an ancestral chromosome in the Japanese population.(2)We identified a new complementation group of PBDs with PEX14 as the defective gene.(3)To clarify the mechanizm of temperature sensitive phenomenon, we analyze Pex13p-pex14p interaction by three dementional structure and far-UV circular dichroism spectra, using the purified recombinant proteins, and by the immunofluorescent studies, using the fibroblasts from the patients.(4)We established the screening system of peroxisomal disorders by gas chromatography/mass spectrometry anafysis of very long chain fatty acids, phytanic acid and plasmalogen.(5)We identified a peroxisome-specific isoform of Lon protease, an ATP-dependent protease with chaperone-like activities.(6)We demonstrated peroxisomal localization in Purkinje cells and Bergmann glia of the developing mouse cerebellum, using double immunofluorescent staining for peroxisomal proteins.

(1)We确定了31名患有过氧化物酶体生物发生障碍（PBD）的日本患者，在日本人群中，一种常见的突变发生在祖先染色体上。(2)We鉴定了一个新的与缺陷基因PEX 14互补的PBD群。(3)To为了阐明温度敏感现象的机理，我们利用纯化的重组蛋白，通过三维结构和远紫外圆二色性光谱，以及利用患者成纤维细胞的免疫荧光研究，分析了Pex 13 p-pex 14 p相互作用。(4)We建立了超长链脂肪酸、植烷酸和缩醛磷脂的气相色谱/质谱联用分析过氧化物酶体疾病的筛选体系。(5)We鉴定了Lon蛋白酶的过氧化物酶体特异性同种型，Lon蛋白酶是一种具有伴侣样活性的ATP依赖性蛋白酶。(6)We证明过氧化物酶体定位在浦肯野细胞和伯格曼神经胶质细胞的发展小鼠小脑，使用双重免疫荧光染色过氧化物酶体蛋白。

项目成果

Proteomic analysis of rat liver peroxisome : Presence of peroxisome-specific isozyme of Ion protease.

大鼠肝脏过氧化物酶体的蛋白质组学分析：离子蛋白酶过氧化物酶体特异性同工酶的存在。

• 发表时间: 2004
• 期刊: J Biol Chem. 279(1)
• 作者: Kikuchi M;Hatano N;Yokota S;Shimozawa N;Imanaka T;Taniguchi H.
• 通讯作者: Taniguchi H.

Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. In : Roels F, Baes M, De Bie S eds. Peroxisomal Disorders and Regulation of Genes

日本过氧化物酶体生物发生障碍患者的遗传异质性以及 PEX10 基因最常见突变的创始人单倍型的证据。

• 发表时间: 2003
• 期刊: Adv Exp Med Biol (Kluwer Academic/Plenum Publishers, New York) 544
• 作者: Shimozawa N;Nagase T;Takemoto Y;Suzuki Y;Kondo N.
• 通讯作者: Kondo N.

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorders

四名无关的过氧化物酶体生物发生障碍患者 PEX2 基因的新突变

• 发表时间: 2004
• 期刊: Pediatr Res 55
• 作者: J Gootjes;N Shimozawa et al.
• 通讯作者: N Shimozawa et al.

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

• DOI: 10.1002/humu.20032
• 发表时间: 2004-06-01
• 期刊: HUMAN MUTATION
• 影响因子: 3.9
• 作者: Shimozawa, N;Tsukamoto, T;Kondo, N
• 通讯作者: Kondo, N

Peroxisomal Disorders and Regulation of Genes

• DOI: 10.1007/978-1-4419-9072-3
• 发表时间: 2003
• 作者: F. Roels;M. Baes;S. Bie