Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans

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Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans.

Peroxisomes are ubiquitous eukaryotic organelles. The proteins required for peroxisome biogenesis are called peroxins, and mutations in the peroxin genes cause the devastating human developmental syndromes called the peroxisome biogenesis disorders. Our interest is in elaborating the roles that peroxisomes play in Caenorhabditis elegans development, and in establishing an invertebrate model sys...

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Peroxisome is a single-membrane-bounded ubiquitous organelle containing a hundred different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. To investigate peroxisome biogenesis and human peroxisome biogenesis disorders (PBDs) including Zellweger syndrome, more than a dozen different complementation groups of Chin...

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diagnosis of human peroxisomal biogenesis disorders: molecular understanding of peroxisome

peroxisomes are single membrane bound organelles present in a wide variety of eukaryotes from yeast to human, have different functions, two of which are well conserved, i.e. hydrogen peroxide decomposition and fatty acid beta-oxidation. the process of peroxisome biogenesis can be divided into distinct steps including peroxisome membrane assembly, import of matrix proteins and peroxisome prolife...

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Peroxisome biogenesis disorders

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the P...

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ژورنال

عنوان ژورنال: Journal of Cell Science

سال: 2003

ISSN: 1477-9137,0021-9533

DOI: 10.1242/jcs.00380