TY - CHAP
T1 - Peroxisome Biogenesis Disorders
AU - Honsho, Masanori
AU - Okumoto, Kanji
AU - Tamura, Shigehiko
AU - Fujiki, Yukio
N1 - Funding Information:
Acknowledgments We apologize to the colleagues in this field for not citing all their work due to space limitations. We thank M. Ishii for figure illustrations. This work was supported in part by Grants-in-Aid for Scientific Research: JP17K07337 (to M.H.), JP17K07310 (to K.O.), JP19K06567 (to S.T.), and JP24247038, JP25112518, JP25116717, JP 26116007, JP15K14511, and JP117H03675 (to Y.F.) and from the Ministry of Education, Culture, Sports, Science and Technology of Japan and grants from the Takeda Science Foundation and the Naito Foundation to Y.F.
Publisher Copyright:
© 2020, Springer Nature Switzerland AG.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
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U2 - 10.1007/978-3-030-60204-8_4
DO - 10.1007/978-3-030-60204-8_4
M3 - Chapter
C2 - 33417206
AN - SCOPUS:85099715926
T3 - Advances in Experimental Medicine and Biology
SP - 45
EP - 54
BT - Advances in Experimental Medicine and Biology
PB - Springer
ER -