Peroxisome Biogenesis Disorder (PBD): Types 1-14, A (Zellweger) and Bdoi:10.1007/978-3-319-66816-1_1781-1Syndrome OMIM number : #602136, #170993, #603164, #600414, #601498, #601757, #602859, #603866, #603867, #607583, #601758, #601759, #601791, #603360, #6000279, #608666...
Peroxisomal-type ATPase 1 peroxisome Peroxisome assembly factor 1 peroxisome assembly factor 2 Peroxisome assembly factor 3 peroxisome assembly factor-1 Peroxisome assembly protein 10 peroxisome assembly protein 12 Peroxisome Biogenesis Peroxisome Biogenesis Disorder ...
The severe structural and functional abnormalities of the central nervous system (CNS) seen in patients with peroxisome biogenesis disorders (PBDs) (Evrard et al.1978; Powers et al.1985) (Table1) demonstrate the important role of peroxisomes in normal development and function of the brain. This ...
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. In humans, defects in peroxisome assembly result in the peroxisome biogenesis disorders (PBDs), a group of genetically heterogeneous, lethal recessive dise... T Yahrau...
Peroxisome biogenesis and peroxisome biogenesis disorders - ScienceDirect Peroxisome assembly in mammals requires more than 15 genes. Two isoforms of the peroxisome targeting signal type 1 (PTS1) receptor, Pex5pS and Pex5pL, are ... Y Fujiki - 《International Congress》 被引量: 221发表: 2000年...
peroxisome biogenesis disorderPEXperoxinThe discovery of the colocalization of catalase with H2O2-generating oxidases in peroxisomes was the first indication of... M Schrader,HD Fahimi - 《Biochimica Et Biophysica Acta》 被引量: 525发表: 2007年 ...
The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (rhizomelic chondrodysplasia punctata)...
Peroxisome biogenesis Fig. 1: Schematics of the peroxisome biogenesis and degradation systems. The number of peroxisomes is regulated by de novo biogenesis and the growth and division of pre-existing organelles. First, peroxisomes can be formed by the maturation of preperoxisomal vesicles that emerge...
Xavier-Castellanos-Girouard/Peroxisome-biogenesis-initiated-by-protein-phase-separation: Droplet_Fusion v0.1. Zenodo https://doi.org/10.5281/zenodo.7702890 (2023). Download references Acknowledgements We thank M. Schuldiner for seamless SWAT strains and advice on the VPS1 knockouts, J. Vogel for...
PBD peroxisomal biogenesis disorder PED peroxisomal enzyme deficiency PEX peroxin PHYH phytanoyl-CoA 2-hydoxylase PrDH pristanal dehydrogenase SCPx SCPx sVLCFA saturated very long chain fatty acids THCA trihydroxycholestanoic acid unVLCFA unsaturated very long chain fatty acids VLCFA very long chain fatt...