Results 21 to 30 of about 4,018 (220)

Phytanic acid impairs mitochondrial respiration through protonophoric action. [PDF]

Cell Mol Life Sci, 2007
Refsum disease is a rare, inherited neurodegenerative disorder characterized by accumulation of the dietary branched-chain fatty acid phytanic acid in plasma and tissues caused by a defect in the alphaoxidation pathway. The accumulation of phytanic acid is believed to be the main pathophysiological cause of the disease.
Komen JC, Distelmaier F, Koopman WJ, Wanders RJ, Smeitink J, Willems PH.   +5 more
europepmc   +5 more sources

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [PDF]

JIMD Rep, 2016
Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment.
Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L.   +12 more
europepmc   +3 more sources

Phytanic acid stimulates glucose uptake in a model of skeletal muscles, the primary porcine myotubes. [PDF]

Lipids Health Dis, 2013
BACKGROUND: Phytanic acid (PA) is a chlorophyll metabolite with potentials in regulating glucose metabolism, as it is a natural ligand of the peroxisome proliferator-activated receptor (PPAR) that is known to regulate hepatic glucose homeostasis.
Che BN, Oksbjerg N, Hellgren LI, Nielsen JH, Young JF.   +4 more
europepmc   +5 more sources

INFANTILE PHYTANIC ACID STORAGE DISEASE: A DEFECT IN PHYTANIC ACID OXIDATION [PDF]

Pediatric Research, 1984
Refsum's disease is caused by deficient activity of phytanic acid a oxidase; phytanic acid may account for 30% of plasma fatty acids. Four cases of infantile phytanic acid storage disease have been reported. We describe 2 other unrelated infants.
N Buist, S Budden, R Weleber, N Kennaway
openaire   +1 more source

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

Case Reports in Ophthalmological Medicine, 2021
Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay,
Omar Elghawy, Alice Y. Zhang, Ryan Duong, William G. Wilson, Eugene Y. Shildkrot   +4 more
doaj   +1 more source

Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata

Journal of Lipid Research, 1996
In humans the oxidation of phytanic acid is a peroxisomal function. To understand the possible mechanisms for the pathognomic accumulation of phytanic acid in plasma and body fluids of Refsum disease (RD) and rhizomelic chondrodysplasia punctata (RCDP ...
K Pahan, M Khan, I Singh
doaj   +1 more source

The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes

Neurobiology of Disease, 2005
The saturated branched chain fatty acid, phytanic acid, a degradation product of chlorophyll, accumulates in Refsum disease, an inherited peroxisomal disorder with neurological clinical features. To elucidate the pathogenic mechanism, we investigated the
Stefan Kahlert, Peter Schönfeld, Georg Reiser   +2 more
doaj   +1 more source

Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor α

Journal of Lipid Research, 2000
Phytanic acid and pristanic acid are branched-chain fatty acids, present at micromolar concentrations in the plasma of healthy individuals. Here we show that both phytanic acid and pristanic acid activate the peroxisome proliferator-activated receptor α (
Anna W.M. Zomer, Bart van der Burg, Gerbert A. Jansen, Ronald J.A. Wanders, Bwee Tien Poll-The, Paul T. van der Saag   +5 more
doaj   +1 more source

Effects of butter from mountain-pasture grazing cows on risk markers of the metabolic syndrome compared with conventional Danish butter: a randomized controlled study. [PDF]

, 2013
BACKGROUND: There is considerable interest in dairy products from low-input systems, such as mountain-pasture grazing cows, because these products are believed to be healthier than products from high-input conventional systems.
A Bonanome, A Motard-Belanger, A Wolk, A Wolk, AE Smedman, AK Lough, AL Lock, BP Neve, C Ip, EH Temme, F Bargo, F Leiber, GF Schroeder, I Sluijs, IA Brouwer, J Folch, J Kraft, JM Chardigny, JW Ryder, KL Houseknecht, Lars I. Hellgren, LB Werner, Louise B. Werner, M Heim, M Noakes, M Raff, MA Denke, Marianne Raff, MB Katan, MF McCarty, P Ellinghaus, PK Lemotte, PL Zock, R Mukherjee, Rikke A. Petersen, RJ Dewhurst, RJ Nicolosi, RP Mensink, RP Mensink, RP Mensink, RR Grummer, RS McLeod, S Couvreur, S Desroches, S Kitareewan, S Tricon, S Yu, SD Poppitt, SM Grundy, Søren K. Jensen, T Tholstrup, T Tholstrup, T Tholstrup, T Tholstrup, T Tholstrup, T Tholstrup, TC Jenkins, Tine Tholstrup, Tue Drachmann, World Health Organization Study Group   +59 more
core   +2 more sources

Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein

Journal of Lipid Research, 1999
Branched-chain phytanic acid is metabolized in liver peroxisomes. Sterol carrier protein 2/sterol carrier protein x (SCP2/SCPx) knockout mice, which develop a phenotype with a deficiency in phytanic acid degradation, accumulate dramatically high ...
Christian Wolfrum, Peter Ellinghaus, Manfred Fobker, Udo Seedorf, Gerd Assmann, Torsten Börchers, Friedrich Spener   +6 more
doaj   +1 more source