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 ...
Peroxisomal acyl-CoA oxidase 1 deficiency ACOX1D Peroxisomal acyl-CoA NALD-like disease oxidase 1 D-bifunctional protein deficiency DBPD HSD17B4 D-bifunctional protein ZS-like disease Rhizomelic chondrodysplasia punctata type 2 RCDP2 GNPAT Dihydroxyacetone RCDP and variants phosphate acyltransferase Rhizom...
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 ...
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...
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...
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:...
This is the case for D-bifunctional protein deficiency, peroxisomal acyl-CoA oxidase 1 deficiency and the RCDP types 2 and 3. The most common single peroxisomal enzyme disorder is the X-linked adrenoleukodystrophy (ALD)/adrenomyeloneuropathy (AMN) complex that consists of a spectrum of phenotypes...
To date, four disorders of peroxisomal fatty acid β–oxidation have been defined: acyl-CoA oxidase deficiency, d-bifunctional protein deficiency, peroxisomal thiolase deficiency, and 2-methylacyl-CoA racemase deficiency (Wanders et al, 2001). The clinical presentation of the first three disorders re...
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. ...
transformation, a full-length cDNA encoding rat urate oxidase (UOX), which oxidizes uric acid to allantoin and in the process generates H2O2, was introduced into African green monkey kidney cells (CV-1 cells) under the control of constitutively active human peroxisomal fatty acyl-CoA oxidase ...