scholarly journals Refsum Disease

2019 ◽  
Author(s):  
Keyword(s):  
Refsum Disease

Phenotype of adult Refsum disease due to a defect in peroxin 7

Neurology ◽  
2007 ◽  
Vol 68 (9) ◽  
pp. 698-700 ◽  
Author(s):  
M. A. Horn ◽  
D. M. van den Brink ◽  
R.J.A. Wanders ◽  
M. Duran ◽  
B. T. Poll-The ◽  
...  
Keyword(s):  
Refsum Disease

Autopsy findings in two siblings with infantile Refsum disease

1992 ◽  
Vol 83 (2) ◽  
pp. 190-195 ◽  
Author(s):  
C. W. Chow ◽  
A. Poulos ◽  
A. J. Fellenberg ◽  
J. Christodoulou ◽  
D. M. Danks
Keyword(s):  
Refsum Disease ◽  
Autopsy Findings ◽  
Infantile Refsum Disease

scholarly journals Infantile Refsum disease

2020 ◽  
Author(s):  
Keyword(s):  
Refsum Disease ◽  
Infantile Refsum Disease

Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein

2004 ◽  
Vol 313 (1) ◽  
pp. 156-162 ◽  
Author(s):  
Jeong Tae Koh ◽  
Byung Chul Jeong ◽  
Jae Ha Kim ◽  
Young Keun Ahn ◽  
Hyang Sim Lee ◽  
...  
Keyword(s):  
Disease Gene ◽  
Refsum Disease

Refsum Disease

2012 ◽  
Keyword(s):  
Refsum Disease

scholarly journals Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

FEBS Journal ◽  
2020 ◽  
Vol 287 (23) ◽  
pp. 5096-5113 ◽  
Author(s):  
Agnieszka B. Wegrzyn ◽  
Katharina Herzog ◽  
Albert Gerding ◽  
Marcel Kwiatkowski ◽  
Justina C. Wolters ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Refsum Disease ◽  
Scale Modelling ◽  
Genome Scale

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease

2001 ◽  
Vol 101 (6) ◽  
pp. 697-705 ◽  
Author(s):  
S.P. YOUNG ◽  
A.W. JOHNSON ◽  
D.P.R. MULLER
Keyword(s):  
Vitamin E ◽  
Phytanic Acid ◽  
Retinal Cell ◽  
Physical Parameters ◽  
Refsum Disease ◽  
Membrane Composition ◽  
Complex Situation ◽  
Retinal Cells ◽  
Membrane Function

Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter membrane composition and structure, thereby affecting membrane function(s). The anti-metabolite hypothesis suggests that an accumulation of phytanic acid in membranes may interfere with vitamin E function. These two hypotheses were investigated by studying the effects of modulating phytanic acid and α-tocopherol concentrations on the fatty acid composition and certain physical parameters of cultured retinal cells. Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity, (c) there was no competition for uptake between phytanic acid and α-tocopherol, and (d) the incorporation of phytanic acid did not increase the susceptibility of membranes to lipid peroxidation in vitro. These results obtained with cultured retinal cells suggest that the molecular distortion hypothesis, but not the anti-metabolite hypothesis, could explain the pathogenesis of adult Refsum disease. In vitro tissue culture models can, however, only approximate to the much more complex situation that occurs in vivo.

Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa

2008 ◽  
Vol 266 (1-2) ◽  
pp. 182-186 ◽  
Author(s):  
Josef Finsterer ◽  
Günther Regelsberger ◽  
Till Voigtländer
Keyword(s):  
Retinitis Pigmentosa ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Refsum Disease ◽  
Site Mutation
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