Peroxisome Biogenesis Disorders.
CHO mutant cells
Complementation groups (CGs)
Next-generation sequencing
Peroxin gene PEX
Peroxisomal biogenesis disorders (PBDs)
Zellweger spectrum disorders (ZSDs)
Journal
Advances in experimental medicine and biology
ISSN: 0065-2598
Titre abrégé: Adv Exp Med Biol
Pays: United States
ID NLM: 0121103
Informations de publication
Date de publication:
2020
2020
Historique:
entrez:
8
1
2021
pubmed:
9
1
2021
medline:
9
2
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33417206
doi: 10.1007/978-3-030-60204-8_4
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
45-54Références
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