A Mouse Model System to Study Peroxisomal Roles in Neurodegeneration of Peroxisome Biogenesis Disorders

研究成果: Chapter in Book/Report/Conference proceedingChapter

1 被引用数 (Scopus)

抄録

Fourteen PEX genes are currently identified as genes responsible for peroxisome biogenesis disorders (PBDs). Patients with PBDs manifest as neurodegenerative symptoms such as neuronal migration defect and malformation of the cerebellum. To address molecular mechanisms underlying the pathogenesis of PBDs, mouse models for the PBDs have been generated by targeted disruption of Pex genes. Pathological phenotypes and metabolic abnormalities in Pex-knockout mice well resemble those of the patients with PBDs. The mice with tissue- or cell type-specific inactivation of Pex genes have also been established by using a Cre-loxP system. The genetically modified mice reveal that pathological phenotypes of PBDs are mediated by interorgan and intercellular communications. Despite the illustrations of detailed pathological phenotypes in the mutant mice, mechanistic insights into pathogenesis of PBDs are still underway. In this chapter, we overview the phenotypes of Pex-inactivated mice and the current understanding of the pathogenesis underlying PBDs.

本文言語英語
ホスト出版物のタイトルAdvances in Experimental Medicine and Biology
出版社Springer
ページ119-143
ページ数25
DOI
出版ステータス出版済み - 2020
外部発表はい

出版物シリーズ

名前Advances in Experimental Medicine and Biology
1299
ISSN(印刷版)0065-2598
ISSN(電子版)2214-8019

All Science Journal Classification (ASJC) codes

  • 生化学、遺伝学、分子生物学(全般)

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