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Literature summary for 1.2.1.48 extracted from

  • Gloerich, J.; Ijlst, L.; Wanders, R.J.; Ferdinandusse, S.
    Bezafibrate induces FALDH in human fibroblasts; implications for Sjoegren-Larsson syndrome (2006), Mol. Genet. Metab., 89, 111-115.
    View publication on PubMed

Application

Application Comment Organism
medicine 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 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Source Tissue

Source Tissue Comment Organism Textmining
skin fibroblast
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Homo sapiens
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Synonyms

Synonyms Comment Organism
ALDH3A2
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Homo sapiens
FALDH
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Homo sapiens