Peroxisome Biogenesis Disorders

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

抄録

Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of peroxisome, causes peroxisome biogenesis disorders (PBDs). Fourteen complementation groups of PBDs are found, and their complementing genes termed PEXs are isolated. Several new mutations in peroxins from patients with mild PBD phenotype or patients with phenotypes unrelated to the commonly observed impairments of PBD patients are found by next-generation sequencing. Exploring a dysfunctional step(s) caused by the mutation is important for unveiling the pathogenesis of novel mutation by means of cellular and biochemical analyses.

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45-54
ページ数10
DOI
出版ステータス出版済み - 2020

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

  • Biochemistry, Genetics and Molecular Biology(all)

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