Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome
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Cited by (27)
Phytol in a pharma-medico-stance
2015, Chemico-Biological InteractionsCitation Excerpt :In addition, PYT has also been previously reported to have antispasmodic activity [4]. PA along with its α-oxidation product called pristanic acid [98,99] is apparently accumulated in patients suffering from RD [100,101], SLS [40,102], RCDP [103–107], chronic polyneuropathy with bilateral shortening of the proximal phalanges and ichthyosis [108], progressive ataxia and disarthria [109], infantile RD, ZDHA or neonatal adrenoleucodystrophy with characteristic incongruities [102,104,110–112] and RBC in great apes [113]. Although the methyl group at C3 position of PA makes it difficult for β-oxidation [114,115] but the NADPH dependent Ω-oxidation [116] suggests PA as an important biomarker to the above-mentioned patients [43,113,117–120].
Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry
2012, International Journal of Mass SpectrometryCitation Excerpt :As a consequence, the import of the mammalian PTS2 proteins acetyl-Coenzyme A (CoA) acyltransferase (Acaa1)[32], alkylglycerone phosphate synthase (Agps)[33], and phytanoyl-CoA hydroxylase (Phyh) [34–36] is abolished. Impaired import of Phyh and Agps leads to the accumulation of phytanic acid [37] and deficient synthesis of plasmalogens [38,39], respectively. Interestingly, deficient import of Acaa1 did not affect fatty acid β-oxidation in RCDP type 1 patients [14,40,41].
Mechanisms of action of extracorporeal photochemotherapy
2003, Transfusion and Apheresis SciencePhytanic acid α-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts
1997, Biochimica et Biophysica Acta - Molecular Basis of DiseaseA new type of peroxisomal disorder with variable expression in liver and fibroblasts
1994, The Journal of Pediatrics