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EC Number Application Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.48medicine diagnosis and therapeutic approaches of Sjögren-Larsson syndrome 670286
Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.48medicine direct link between FALDH inactivation and disease pathology of Sjögren-Larsson syndrome caused by accumulation of alcohols 693389
Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.48medicine FALDH activity is induced 1.4fold after a 3-day treatment with 0.8 mM bezafibrate in fibroblasts of control subjects. In fibroblasts of two Sjögren-Larsson patients homozygous for the p.R228C substitution, FALDH activity could by induced to 37% of control values by bezafibrate treatment. mRNA analysis in fibroblasts of these patients also reveals a mean 1.8fold induction of FALDH mRNA after bezafibrate treatment. No induction is observed in fibroblasts of patients with mutations that cause instability of FALDH mRNA or that result in a protein without any residual activity 670285
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