Article
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.
Brain pathology (Zurich, Switzerland) - 1 Nov 2018
Schlüter Agatha, Sandoval Juan, Fourcade Stéphane, Díaz-Lagares Angel, Ruiz Montserrat, Casaccia Patrizia, Esteller Manel, Pujol Aurora
Abstract excerpt
Epigenomic changes may either cause disease or modulate its expressivity, adding a layer of complexity to mendelian diseases. X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic condition exhibiting discordant phenotypes, ranging from a childhood cerebral inflammatory demyelination (cALD) to an adult-onset mild axonopathy in spinal cords (AMN). The AMN form may occur with superimposed inflammatory...
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