Studies in fibroblasts from the two patients revealed a deficiency of one of the two peroxisomal acyl-CoA oxidases, that is, straight-chain acyl-CoA oxidase (ACOX1). Subsequent molecular analysis of ACOX1 showed a homozygous deletion, which removes a large part of intron 3 and exons 4-14 ...
The peroxisomal acyl-CoA oxidase has been purified from extracts of the yeast Candida tropicalis grown with alkanes as the principal energy source. The enzyme has a molecular weight of 552,000 and a subunit molecular weight of 72,100. Using an experimentally determined molar extinction coefficient ...
neonatal adrenoleukodystrophy; IRD, infantile Refsum disease; AOXD, acyl-CoA oxidase 1 deficiency; DBPD, D-bifunctional protein deficiency; RCDP, rhizomelic chondrodysplasia punctata; X-ALD, X-linked adrenoleukodystrophy; RD, Refsum disease; AMACRD, 2-methylacyl-CoA racemase deficiency; N, normal;...
M. Cherkaoui-Malki, F. Caira, Northern blotting analysis of rat liver mRNA encoding for peroxisomal acyl-CoA oxidase, in: N. Latruffe, M. Bugaut (Eds.), Peroxisomes, Springer Verlag, Berlin, 1994, pp. 61-73.Cherkaoui Malki M, Caira F (1993) Northern blotting analysis of rat liver...
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase. Biochim Biophys Acta. 2018;1864:952–958. Article CAS Google Scholar Ferdinandusse S, van Grunsven EG, Oostheim W, et al. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency:...
peroxisomal Medical Encyclopedia Wikipedia Related to peroxisomal:peroxisomal disease per·ox·i·some (pə-rŏk′sĭ-sōm′) n. A cell organelle containing a large number of enzymes, including catalase and oxidase, that break down long-chain fatty acids and other organic molecules. The hydroge...
ALD/AMN is an exception to the Group 2 rule in that its defective gene product is an integral membrane protein, not a matrix enzyme, and D-BP and acyl-CoA oxidase deficiency are exceptional because they display defects in peroxisomal structure. ALD/AMN, D-BP deficiency, and acyl-CoA ...
B. Translocation of acyl-CoA oxidase into peroxisomes requires ATP hydrolysis but not a membrane potential. J. Cell Biol. 105, 2915–2922 (1987). Article CAS PubMed Google Scholar Wendland, M. & Subramani, S. Cytosol-dependent peroxisomal protein import in a permeabilized cell system. J. ...
Evidence from mice deficient in PPARα (PPARα-/-), deficient in peroxisomal fatty acyl-CoA oxidase (AOX-/-), the first enzyme of the classical β-oxidation system, and deficient in both PPARα and AOX (PPARα-/-AOX-/-) points to the critical importance of PPARα-inducible peroxisomal ...
On immunoblot analysis, immunoreactive proteins of peroxisomal acyl-CoA oxidase, bifunctional protein and 3-oxoacyl-CoA thiolase were not detected in the livers, kidneys and fibroblasts from the patients. Proteins of catalase and some enzymes of mitochondrial fatty acid oxidation were similar as in ...