Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium–lithium countertransporter

Abstract

These findings suggest that phytanic acid may alter the behaviour of the sodium-lithium countertransporter.

Effects of lipids in patients with familial hypercholesterolaemia on the kinetics of the sodium-lithium countertransporter

“…It has also been shown that SLC activity can be affected by the identity of fatty acids with a reduction in activity with the alpha-methylated fatty acids in Refsum's disease. 17 Membrane function has been shown to be affected by these fatty acids 18 and also by cholesterol. 10 The aims of this study were to investigate whether SLC kinetics were affected by severe hypercholesterolaemia in the absence of hypertension.…”

Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)

“…the physical state of cellular membranes may change [Young et al, 2001;Schönfeld and Struy, 1999;Wierzbicki et al, 1998;Gutknecht, 1987;Janko and Benz, 1977], which could interfere with proper membrane function. So far, direct evidence for the role of this ''membrane distortion'' in the development of clinical symptoms in RD has not been provided.…”